Details for: SCNN1B

Gene ID: 6338

Symbol: SCNN1B

Ensembl ID: ENSG00000168447

Description: sodium channel epithelial 1 subunit beta

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: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 20.7785
    Cell Significance Index: -9.8100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 9.6256
    Cell Significance Index: -9.1900
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 4.6304
    Cell Significance Index: 53.8300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.5663
    Cell Significance Index: -12.2300
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 3.8102
    Cell Significance Index: 8.5900
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 2.8957
    Cell Significance Index: 29.8700
  • Cell Name: salivary gland glandular cell (CL1001596)
    Fold Change: 2.2224
    Cell Significance Index: 12.3700
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 2.0553
    Cell Significance Index: 22.2800
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.7619
    Cell Significance Index: 15.6400
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.6812
    Cell Significance Index: 11.1600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.6588
    Cell Significance Index: 15.2800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.3381
    Cell Significance Index: 69.5100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.1192
    Cell Significance Index: 27.1100
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 1.0891
    Cell Significance Index: 4.1700
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.8882
    Cell Significance Index: 5.4800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.8727
    Cell Significance Index: 24.3900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6355
    Cell Significance Index: 28.8100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.6307
    Cell Significance Index: 9.4500
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.4034
    Cell Significance Index: 1.3900
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.3543
    Cell Significance Index: 2.0800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2969
    Cell Significance Index: 268.0900
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.2296
    Cell Significance Index: 2.4300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2236
    Cell Significance Index: 40.3000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2112
    Cell Significance Index: 20.8900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2096
    Cell Significance Index: 2.8600
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.2002
    Cell Significance Index: 1.3100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1798
    Cell Significance Index: 29.2400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1326
    Cell Significance Index: 16.3100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.1097
    Cell Significance Index: 15.9500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1051
    Cell Significance Index: 57.3900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1036
    Cell Significance Index: 19.7200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.0776
    Cell Significance Index: 8.4500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0653
    Cell Significance Index: 45.1500
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0649
    Cell Significance Index: 0.8200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0559
    Cell Significance Index: 1.7900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0342
    Cell Significance Index: 2.3700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0288
    Cell Significance Index: 0.8300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0242
    Cell Significance Index: 0.6600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.0240
    Cell Significance Index: 1.0500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0227
    Cell Significance Index: 0.4700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0152
    Cell Significance Index: 11.5400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0143
    Cell Significance Index: 0.3100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0132
    Cell Significance Index: 5.8500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0010
    Cell Significance Index: -1.9400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0020
    Cell Significance Index: -0.0700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0025
    Cell Significance Index: -4.6600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0043
    Cell Significance Index: -6.6700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0047
    Cell Significance Index: -0.0800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0058
    Cell Significance Index: -7.9000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0060
    Cell Significance Index: -0.1500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0106
    Cell Significance Index: -6.7100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0116
    Cell Significance Index: -8.4800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0138
    Cell Significance Index: -2.7700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0139
    Cell Significance Index: -4.9900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0141
    Cell Significance Index: -10.4400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0163
    Cell Significance Index: -7.4000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0171
    Cell Significance Index: -9.6200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0259
    Cell Significance Index: -1.5900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0285
    Cell Significance Index: -8.2100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0313
    Cell Significance Index: -6.2100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0316
    Cell Significance Index: -5.3900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0441
    Cell Significance Index: -2.6500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0480
    Cell Significance Index: -6.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0504
    Cell Significance Index: -10.6200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0510
    Cell Significance Index: -6.6000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0700
    Cell Significance Index: -8.1600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0749
    Cell Significance Index: -3.4900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0820
    Cell Significance Index: -8.5400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0834
    Cell Significance Index: -9.5600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0836
    Cell Significance Index: -1.1900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0907
    Cell Significance Index: -9.2600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0956
    Cell Significance Index: -11.2700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1094
    Cell Significance Index: -7.7400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1110
    Cell Significance Index: -2.3700
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.1152
    Cell Significance Index: -1.0500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1214
    Cell Significance Index: -5.7100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1236
    Cell Significance Index: -6.4400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1286
    Cell Significance Index: -9.8700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1396
    Cell Significance Index: -7.0600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1481
    Cell Significance Index: -9.9600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1501
    Cell Significance Index: -2.1500
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.1521
    Cell Significance Index: -2.6000
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: -0.1540
    Cell Significance Index: -1.4200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1542
    Cell Significance Index: -11.4900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1588
    Cell Significance Index: -4.2400
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.1629
    Cell Significance Index: -2.2600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1721
    Cell Significance Index: -10.5800
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.1754
    Cell Significance Index: -2.2700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1791
    Cell Significance Index: -10.0500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1953
    Cell Significance Index: -7.1700
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: -0.1960
    Cell Significance Index: -1.6200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2044
    Cell Significance Index: -5.1100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2047
    Cell Significance Index: -6.0300
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: -0.2100
    Cell Significance Index: -2.8800
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.2101
    Cell Significance Index: -3.0500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2130
    Cell Significance Index: -9.4200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2187
    Cell Significance Index: -7.6600
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.2213
    Cell Significance Index: -2.2900
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.2278
    Cell Significance Index: -4.7500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2298
    Cell Significance Index: -7.5300

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 SCNN1B gene is a member of the sodium channel complex subunit family and is composed of three subunits: alpha, beta, and gamma. The beta subunit (SCNN1B) is a crucial component of ENaC and is responsible for binding to the alpha subunit, forming the functional channel. The beta subunit is characterized by its unique structure, which includes a WW domain that interacts with the alpha subunit. SCNN1B is highly expressed in epithelial cells, including those in the kidneys, lungs, and gut. **Pathways and Functions:** ENaC, comprising the SCNN1B subunit, plays a critical role in regulating sodium ion balance and fluid homeostasis in various organs. The following pathways and functions are mediated by ENaC: 1. **Sodium ion homeostasis:** ENaC regulates the transport of sodium ions across the apical plasma membrane, maintaining sodium balance and fluid homeostasis in epithelial cells. 2. **Blood pressure regulation:** ENaC influences blood pressure by modulating sodium ion balance and fluid volume in the bloodstream. 3. **Epithelial fluid transport:** ENaC regulates the transport of water and ions across the apical plasma membrane, maintaining epithelial fluid balance. 4. **Regulation of blood pressure:** ENaC is involved in the regulation of blood pressure through its effects on sodium ion balance and fluid homeostasis. 5. **Response to hormones:** ENaC is sensitive to various hormones, including aldosterone, vasopressin, and serotonin, which regulate sodium ion balance and fluid homeostasis. **Clinical Significance:** Mutations in the SCNN1B gene have been associated with a range of diseases, including: 1. **Liddle syndrome:** A rare genetic disorder characterized by hypertension, hypokalemia, and metabolic alkalosis. 2. **Pseudohypoaldosteronism type 2 (PHA2):** A condition characterized by hypertension, hypokalemia, and metabolic alkalosis. 3. **Nephrogenic diabetes insipidus:** A condition characterized by impaired sodium ion reabsorption in the kidneys, leading to polyuria and polydipsia. In conclusion, SCNN1B plays a critical role in regulating sodium ion balance, blood pressure, and fluid homeostasis in various organs. Mutations in the SCNN1B gene have significant clinical implications, leading to a range of diseases that affect human health. Further research is needed to fully understand the mechanisms underlying SCNN1B function and its role in human disease.

Genular Protein ID: 846169625

Symbol: SCNNB_HUMAN

Name: Amiloride-sensitive sodium channel subunit beta

UniProtKB Accession Codes:

P51168 C5HTZ2 O60891 Q96KG2 Q9UJ32 Q9UMU5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 3 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 DrugCentral 1 ELM 1 EMBL 18 EMDB 2 Ensembl 2 ExpressionAtlas 1 GO 34 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 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 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 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 2 RNAct 1 Reactome 2 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7490094

Title: Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel.

PubMed ID: 7490094

DOI: 10.1006/geno.1995.1188

PubMed ID: 7762608

Title: Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel.

PubMed ID: 7762608

DOI: 10.1152/ajpcell.1995.268.5.c1157

PubMed ID: 9813171

Title: Gene structure of the human amiloride-sensitive epithelial sodium channel beta subunit.

PubMed ID: 9813171

DOI: 10.1006/bbrc.1998.9625

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: 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: 10493829

Title: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.

PubMed ID: 10493829

DOI: 10.1006/geno.1999.5927

PubMed ID: 7954808

Title: Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.

PubMed ID: 7954808

DOI: 10.1016/0092-8674(94)90250-x

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: 7499195

Title: Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel.

PubMed ID: 7499195

DOI: 10.1074/jbc.270.46.27411

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: 16423824

Title: Delta-subunit confers novel biophysical features to alpha beta gamma-human epithelial sodium channel (ENaC) via a physical interaction.

PubMed ID: 16423824

DOI: 10.1074/jbc.m512293200

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: 20064610

Title: Truncated beta epithelial sodium channel (ENaC) subunits responsible for multi-system pseudohypoaldosteronism support partial activity of ENaC.

PubMed ID: 20064610

DOI: 10.1016/j.jsbmb.2010.01.002

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: 23547933

Title: ENaC modulators and renal disease.

PubMed ID: 23547933

DOI: 10.2174/1874467211306010005

PubMed ID: 24043776

Title: Molecular basis for pH-dependent mucosal dehydration in cystic fibrosis airways.

PubMed ID: 24043776

DOI: 10.1073/pnas.1311999110

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: 7550319

Title: Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.

PubMed ID: 7550319

DOI: 10.1038/ng0995-76

PubMed ID: 8524790

Title: A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

PubMed ID: 8524790

DOI: 10.1073/pnas.92.25.11495

PubMed ID: 8601645

Title: Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.

PubMed ID: 8601645

DOI: 10.1172/jci118606

PubMed ID: 8589714

Title: Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.

PubMed ID: 8589714

DOI: 10.1038/ng0396-248

PubMed ID: 9674649

Title: Genetic analysis of the beta subunit of the epithelial Na+ channel in essential hypertension.

PubMed ID: 9674649

DOI: 10.1161/01.hyp.32.1.129

PubMed ID: 9626162

Title: A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.

PubMed ID: 9626162

DOI: 10.1210/jcem.83.6.5030

PubMed ID: 9794716

Title: Genetic analysis of the epithelial sodium channel in Liddle's syndrome.

PubMed ID: 9794716

DOI: 10.1097/00004872-199816080-00008

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: 12714866

Title: A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension.

PubMed ID: 12714866

DOI: 10.1097/00004872-200305000-00016

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: 15483078

Title: Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.

PubMed ID: 15483078

DOI: 10.1210/jc.2004-1027

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 18507830

Title: Could a defective epithelial sodium channel lead to bronchiectasis.

PubMed ID: 18507830

DOI: 10.1186/1465-9921-9-46

PubMed ID: 19017867

Title: Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.

PubMed ID: 19017867

DOI: 10.1378/chest.08-2246

Sequence Information:

  • Length: 640
  • Mass: 72659
  • Checksum: 5249867F0A960E0C
  • Sequence:
    • MHVKKYLLKG LHRLQKGPGY TYKELLVWYC DNTNTHGPKR IICEGPKKKA MWFLLTLLFA 
ALVCWQWGIF IRTYLSWEVS VSLSVGFKTM DFPAVTICNA SPFKYSKIKH LLKDLDELME 
AVLERILAPE LSHANATRNL NFSIWNHTPL VLIDERNPHH PMVLDLFGDN HNGLTSSSAS 
EKICNAHGCK MAMRLCSLNR TQCTFRNFTS ATQALTEWYI LQATNIFAQV PQQELVEMSY 
PGEQMILACL FGAEPCNYRN FTSIFYPHYG NCYIFNWGMT EKALPSANPG TEFGLKLILD 
IGQEDYVPFL ASTAGVRLML HEQRSYPFIR DEGIYAMSGT ETSIGVLVDK LQRMGEPYSP 
CTVNGSEVPV QNFYSDYNTT YSIQACLRSC FQDHMIRNCN CGHYLYPLPR GEKYCNNRDF 
PDWAHCYSDL QMSVAQRETC IGMCKESCND TQYKMTISMA DWPSEASEDW IFHVLSQERD 
QSTNITLSRK GIVKLNIYFQ EFNYRTIEES AANNIVWLLS NLGGQFGFWM GGSVLCLIEF 
GEIIIDFVWI TIIKLVALAK SLRQRRAQAS YAGPPPTVAE LVEAHTNFGF QPDTAPRSPN 
TGPYPSEQAL PIPGTPPPNY DSLRLQPLDV IESDSEGDAI

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.