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Aliases for SCNN1B Gene

Aliases for SCNN1B Gene

  • Sodium Channel Epithelial 1 Beta Subunit 2 3
  • Sodium Channel, Non Voltage Gated 1 Beta Subunit 2 3 5
  • Sodium Channel, Non-Voltage-Gated 1, Beta Subunit 2 3
  • Nonvoltage-Gated Sodium Channel 1 Subunit Beta 3 4
  • Sodium Channel, Nonvoltage-Gated 1, Beta 2 3
  • Epithelial Na(+) Channel Subunit Beta 3 4
  • Beta-ENaC 3 4
  • Beta-NaCH 3 4
  • ENaCb 3 4
  • SCNEB 3 4
  • Amiloride-Sensitive Sodium Channel Subunit Beta 1 3
  • Nasal Epithelial Sodium Channel Beta Subunit 3
  • Sodium Channel, Non-Voltage-Gated 1, Beta 2
  • Epithelial Sodium Channel Beta-2 Subunit 3
  • Epithelial Sodium Channel Beta-3 Subunit 3
  • Liddle Syndrome 2
  • ENaCbeta 3
  • BESC1 3

External Ids for SCNN1B Gene

Previous GeneCards Identifiers for SCNN1B Gene

  • GC16P022722
  • GC16P023401
  • GC16P023241
  • GC16P023280
  • GC16P023221
  • GC16P021402

Summaries for SCNN1B Gene

Entrez Gene Summary for SCNN1B Gene

  • Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome. [provided by RefSeq, Apr 2009]

GeneCards Summary for SCNN1B Gene

SCNN1B (Sodium Channel Epithelial 1 Beta Subunit) is a Protein Coding gene. Diseases associated with SCNN1B include Bronchiectasis With Or Without Elevated Sweat Chloride 1 and Liddle Syndrome. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Ion channel transport. GO annotations related to this gene include WW domain binding and ligand-gated sodium channel activity. An important paralog of this gene is SCNN1G.

UniProtKB/Swiss-Prot for SCNN1B Gene

  • 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.

Gene Wiki entry for SCNN1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCNN1B Gene

Genomics for SCNN1B Gene

Regulatory Elements for SCNN1B Gene

Enhancers for SCNN1B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SCNN1B on UCSC Golden Path with GeneCards custom track

Genomic Location for SCNN1B Gene

Chromosome:
16
Start:
23,278,231 bp from pter
End:
23,381,299 bp from pter
Size:
103,069 bases
Orientation:
Plus strand

Genomic View for SCNN1B Gene

Genes around SCNN1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCNN1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCNN1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCNN1B Gene

Proteins for SCNN1B Gene

  • Protein details for SCNN1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51168-SCNNB_HUMAN
    Recommended name:
    Amiloride-sensitive sodium channel subunit beta
    Protein Accession:
    P51168
    Secondary Accessions:
    • C5HTZ2
    • O60891
    • Q96KG2
    • Q9UJ32
    • Q9UMU5

    Protein attributes for SCNN1B Gene

    Size:
    640 amino acids
    Molecular mass:
    72659 Da
    Quaternary structure:
    • 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:7499195, PubMed:16423824). Interacts with NEDD4 (via WW domains) (PubMed:11244092, PubMed:12167593). Interacts with NEDD4L (via WW domains) (PubMed:11244092). Interacts with WWP1 (via WW domains) (PubMed:9169421). Interacts with WWP2 (via WW domains) (PubMed:9169421, PubMed:12167593). Interacts with the full length immature form of PCSK9 (pro-PCSK9) (PubMed:22493497). Interacts (N-glycosylated) with BPIFA1; the interaction is direct and inhibits the proteolytic processing of SCNN1A and SCNN1G and the activation of ENaC (PubMed:24124190, PubMed:24043776).

    Alternative splice isoforms for SCNN1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCNN1B Gene

Proteomics data for SCNN1B Gene at MOPED

Post-translational modifications for SCNN1B Gene

  • N-glycosylated. N-glycosylation is required for interaction with BPIFA1.
  • Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SCNN1B Gene

Antibody Products

No data available for DME Specific Peptides for SCNN1B Gene

Domains & Families for SCNN1B Gene

Gene Families for SCNN1B Gene

Protein Domains for SCNN1B Gene

Graphical View of Domain Structure for InterPro Entry

P51168

UniProtKB/Swiss-Prot:

SCNNB_HUMAN :
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily.
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily.
genes like me logo Genes that share domains with SCNN1B: view

Function for SCNN1B Gene

Molecular function for SCNN1B Gene

GENATLAS Biochemistry:
epithelial amiloride-sensitive sodium channel,non-voltage gated in the luminal membrane of the collecting tubule of kidney,subunit beta,regulating blood volume and pressure
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by WNK1, WNK2, WNK3 and WNK4.
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with SCNN1B: view

Human Phenotype Ontology for SCNN1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCNN1B Gene

MGI Knock Outs for SCNN1B:

Animal Model Products

  • Taconic Biosciences Mouse Models for SCNN1B

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for SCNN1B Gene

Localization for SCNN1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCNN1B Gene

Apical cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle membrane. Note=Apical membrane of epithelial cells. {ECO:0000305 PubMed:7490094}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCNN1B Gene COMPARTMENTS Subcellular localization image for SCNN1B gene
Compartment Confidence
extracellular 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SCNN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030659 cytoplasmic vesicle membrane IEA --
GO:0034706 sodium channel complex IDA 24124190
genes like me logo Genes that share ontologies with SCNN1B: view

Pathways & Interactions for SCNN1B Gene

genes like me logo Genes that share pathways with SCNN1B: view

Gene Ontology (GO) - Biological Process for SCNN1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002028 regulation of sodium ion transport IEA --
GO:0007588 excretion TAS 9118951
GO:0055078 sodium ion homeostasis IDA 24124190
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SCNN1B: view

No data available for SIGNOR curated interactions for SCNN1B Gene

Drugs & Compounds for SCNN1B Gene

(8) Drugs for SCNN1B Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, blocker, Target, inhibitor 47
Triamterene Approved Pharma blocker, Target, inhibitor 5
Glyburide Approved Pharma Channel blocker 109
Riluzole Approved, Investigational Pharma Activator Sodium channel protein inhibitor 60
farglitazar Pharma Agonist 0

(1) Additional Compounds for SCNN1B Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5

(2) ApexBio Compounds for SCNN1B Gene

Compound Action Cas Number
Ibutilide Fumarate Class III antiarrhythmic agent 122647-32-9
Riluzole Sodium channel protein inhibitor 1744-22-5
genes like me logo Genes that share compounds with SCNN1B: view

Transcripts for SCNN1B Gene

Unigene Clusters for SCNN1B Gene

Sodium channel, non-voltage-gated 1, beta subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SCNN1B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: -
SP6:
SP7:

Relevant External Links for SCNN1B Gene

GeneLoc Exon Structure for
SCNN1B
ECgene alternative splicing isoforms for
SCNN1B

Expression for SCNN1B Gene

mRNA expression in normal human tissues for SCNN1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCNN1B Gene

This gene is overexpressed in Colon - Transverse (x11.8), Esophagus - Mucosa (x7.7), and Vagina (x4.2).

Protein differential expression in normal tissues from HIPED for SCNN1B Gene

This gene is overexpressed in Testis (58.1) and Tlymphocyte (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCNN1B Gene



SOURCE GeneReport for Unigene cluster for SCNN1B Gene Hs.414614

mRNA Expression by UniProt/SwissProt for SCNN1B Gene

P51168-SCNNB_HUMAN
Tissue specificity: Detected in placenta, lung and kidney (PubMed:7762608). Expressed in kidney (at protein level) (PubMed:22207244).
genes like me logo Genes that share expression patterns with SCNN1B: view

Protein tissue co-expression partners for SCNN1B Gene

- Elite partner

Primer Products

Orthologs for SCNN1B Gene

This gene was present in the common ancestor of animals.

Orthologs for SCNN1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SCNN1B 35
  • 86.82 (n)
  • 85.16 (a)
SCNN1B 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCNN1B 35
  • 88.54 (n)
  • 87.81 (a)
SCNN1B 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scnn1b 35
  • 84.06 (n)
  • 84.17 (a)
Scnn1b 16
Scnn1b 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SCNN1B 35
  • 95.4 (n)
  • 94.19 (a)
SCNN1B 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scnn1b 35
  • 83.75 (n)
  • 83.23 (a)
oppossum
(Monodelphis domestica)
Mammalia SCNN1B 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCNN1B 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCNN1B 35
  • 70.95 (n)
  • 66.4 (a)
SCNN1B 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCNN1B 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scnn1b 35
  • 66.45 (n)
  • 62.08 (a)
African clawed frog
(Xenopus laevis)
Amphibia scnn1b-A-prov 35
worm
(Caenorhabditis elegans)
Secernentea deg-1 37
  • 25 (a)
del-1 37
  • 26 (a)
mec-10 37
  • 26 (a)
mec-4 37
  • 26 (a)
unc-105 37
  • 29 (a)
unc-8 37
  • 29 (a)
ZK770.1 37
  • 29 (a)
asic-1 36
  • 14 (a)
ManyToMany
asic-2 36
  • 18 (a)
ManyToMany
deg-1 36
  • 16 (a)
ManyToMany
del-1 36
  • 19 (a)
ManyToMany
del-4 36
  • 22 (a)
ManyToMany
mec-10 36
  • 16 (a)
ManyToMany
mec-4 36
  • 16 (a)
ManyToMany
unc-105 36
  • 14 (a)
ManyToMany
unc-8 36
  • 17 (a)
ManyToMany
Species with no ortholog for SCNN1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for SCNN1B Gene

ENSEMBL:
Gene Tree for SCNN1B (if available)
TreeFam:
Gene Tree for SCNN1B (if available)

Paralogs for SCNN1B Gene

Paralogs for SCNN1B Gene

(3) SIMAP similar genes for SCNN1B Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SCNN1B: view

Variants for SCNN1B Gene

Sequence variations from dbSNP and Humsavar for SCNN1B Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_007127 Pseudohypoaldosteronism 1, autosomal recessive (PHA1B)
VAR_007128 Liddle syndrome (LIDLS)
VAR_007129 Liddle syndrome (LIDLS)
rs1799980 - 23,377,219(+) CATTG(G/T)CATGT reference, missense
rs1799979 - 23,380,659(+) TGACA(C/T)GGCCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for SCNN1B Gene

Variant ID Type Subtype PubMed ID
esv2714087 CNV Deletion 23290073
esv2600690 CNV Deletion 19546169
esv2714088 CNV Deletion 23290073
esv2714089 CNV Deletion 23290073

Variation tolerance for SCNN1B Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCNN1B Gene

Human Gene Mutation Database (HGMD)
SCNN1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCNN1B Gene

Disorders for SCNN1B Gene

MalaCards: The human disease database

(9) MalaCards diseases for SCNN1B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bronchiectasis with or without elevated sweat chloride 1
  • bronchiectasis with or without elevated sweat chloride 1, modifier of
liddle syndrome
  • liddle's syndrome
pseudohypoaldosteronism, type i
  • autosomal recessive pseudohypoaldosteronism type 1
idiopathic bronchiectasis
liddle syndrome, scnn1b-related
  • liddle syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SCNNB_HUMAN
  • Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]: 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:16207733, ECO:0000269 PubMed:18507830, ECO:0000269 PubMed:19017867}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Liddle syndrome (LIDLS) [MIM:177200]: An autosomal dominant disorder characterized by hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. {ECO:0000269 PubMed:15483078, ECO:0000269 PubMed:7550319, ECO:0000269 PubMed:8524790, ECO:0000269 PubMed:8601645, ECO:0000269 PubMed:9626162, ECO:0000269 PubMed:9794716}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]: A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss. {ECO:0000269 PubMed:8589714}. Note=The disease is caused by mutations affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed:18634878). {ECO:0000269 PubMed:18634878}.

Relevant External Links for SCNN1B

Genetic Association Database (GAD)
SCNN1B
Human Genome Epidemiology (HuGE) Navigator
SCNN1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCNN1B
genes like me logo Genes that share disorders with SCNN1B: view

No data available for Genatlas for SCNN1B Gene

Publications for SCNN1B Gene

  1. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. (PMID: 19017867) Mutesa L. … Bours V. (Chest 2009) 3 4 23 48 67
  2. Six missense mutations of the epithelial sodium channel beta and gamma subunits in Japanese hypertensives. (PMID: 15198480) Kamide K. … Miyata T. (Hypertens. Res. 2004) 3 23 25 26
  3. Epithelial sodium channel (ENaC) family: Phylogeny, structure-function, tissue distribution, and associated inherited diseases. (PMID: 26772908) Hanukoglu I. … Hanukoglu A. (Gene 2016) 2 3
  4. Inhibition of lung fluid clearance and epithelial Na+ channels by chlorine, hypochlorous acid, and chloramines. (PMID: 20106988) Song W. … Matalon S. (J. Biol. Chem. 2010) 3 23
  5. A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome. (PMID: 19344079) Sawathiparnich P. … Limwongse C. (J. Pediatr. Endocrinol. Metab. 2009) 3 23

Products for SCNN1B Gene

Sources for SCNN1B Gene

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