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Aliases for SCNN1G Gene

Aliases for SCNN1G Gene

  • Sodium Channel Epithelial 1 Gamma Subunit 2 3
  • Sodium Channel, Non Voltage Gated 1 Gamma Subunit 2 3 5
  • Sodium Channel, Non-Voltage-Gated 1, Gamma Subunit 2 3
  • Nonvoltage-Gated Sodium Channel 1 Subunit Gamma 3 4
  • Sodium Channel, Nonvoltage-Gated 1, Gamma 2 3
  • Sodium Channe Epithelial 1 Gamma Subunit 2 3
  • Epithelial Na(+) Channel Subunit Gamma 3 4
  • Gamma-ENaC 3 4
  • Gamma-NaCH 3 4
  • ENaCg 3 4
  • SCNEG 3 4
  • Amiloride-Sensitive Epithelial Sodium Channel Gamma Subunit 3
  • Amiloride-Sensitive Sodium Channel Gamma-Subunit 3
  • Sodium Channel, Non-Voltage-Gated 1, Gamma 2
  • ENaC Gamma Subunit 3
  • ENaCgamma 3
  • BESC3 3
  • PHA1 3

External Ids for SCNN1G Gene

Previous GeneCards Identifiers for SCNN1G Gene

  • GC16P022606
  • GC16P023285
  • GC16P023125
  • GC16P023164
  • GC16P023160
  • GC16P023101
  • GC16P021283

Summaries for SCNN1G Gene

Entrez Gene Summary for SCNN1G 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 gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]

GeneCards Summary for SCNN1G Gene

SCNN1G (Sodium Channel Epithelial 1 Gamma Subunit) is a Protein Coding gene. Diseases associated with SCNN1G include bronchiectasis with or without elevated sweat chloride 3 and liddle syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). GO annotations related to this gene include ion channel activity and sodium channel activity. An important paralog of this gene is ASIC2.

UniProtKB/Swiss-Prot for SCNN1G 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 SCNN1G Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCNN1G Gene

Genomics for SCNN1G Gene

Regulatory Elements for SCNN1G Gene

Genomic Location for SCNN1G Gene

Chromosome:
16
Start:
23,182,715 bp from pter
End:
23,216,883 bp from pter
Size:
34,169 bases
Orientation:
Plus strand

Genomic View for SCNN1G Gene

Genes around SCNN1G on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCNN1G Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCNN1G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCNN1G Gene

Proteins for SCNN1G Gene

  • Protein details for SCNN1G Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51170-SCNNG_HUMAN
    Recommended name:
    Amiloride-sensitive sodium channel subunit gamma
    Protein Accession:
    P51170
    Secondary Accessions:
    • P78437
    • Q6PCC2
    • Q93023
    • Q93024
    • Q93025
    • Q93026
    • Q93027
    • Q96TD2

    Protein attributes for SCNN1G Gene

    Size:
    649 amino acids
    Molecular mass:
    74270 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: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).

neXtProt entry for SCNN1G Gene

Proteomics data for SCNN1G Gene at MOPED

Post-translational modifications for SCNN1G Gene

  • 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.
  • Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation.
  • Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SCNN1G Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SCNN1G Gene

Domains & Families for SCNN1G Gene

Gene Families for SCNN1G Gene

Protein Domains for SCNN1G Gene

Graphical View of Domain Structure for InterPro Entry

P51170

UniProtKB/Swiss-Prot:

SCNNG_HUMAN :
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1G subfamily.
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1G subfamily.
genes like me logo Genes that share domains with SCNN1G: view

Function for SCNN1G Gene

Molecular function for SCNN1G Gene

GENATLAS Biochemistry:
epithelial amiloride-sensitive sodium channel,non-voltage gated in the luminal membrane of the collecting tubule of kidney,subunit gamma,mediating net renal reabsorption of sodium in the distal tubule,regulated by aldosterone
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.

Gene Ontology (GO) - Molecular Function for SCNN1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005272 sodium channel activity IEA,TAS 8521520
GO:0015280 contributes_to ligand-gated sodium channel activity IEA,IDA 24124190
genes like me logo Genes that share ontologies with SCNN1G: view
genes like me logo Genes that share phenotypes with SCNN1G: view

Human Phenotype Ontology for SCNN1G Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCNN1G Gene

MGI Knock Outs for SCNN1G:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SCNN1G Gene

Localization for SCNN1G Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCNN1G Gene

Apical cell membrane; Multi-pass membrane protein. Note=Apical membrane of epithelial cells. {ECO:0000303 PubMed:7490094}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCNN1G Gene COMPARTMENTS Subcellular localization image for SCNN1G gene
Compartment Confidence
extracellular 5
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SCNN1G 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:0034706 sodium channel complex IEA,IDA 24124190
genes like me logo Genes that share ontologies with SCNN1G: view

Pathways & Interactions for SCNN1G Gene

genes like me logo Genes that share pathways with SCNN1G: view

Gene Ontology (GO) - Biological Process for SCNN1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007588 excretion TAS 8640238
GO:0050896 response to stimulus IEA --
GO:0055078 sodium ion homeostasis IDA 24124190
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SCNN1G: view

No data available for SIGNOR curated interactions for SCNN1G Gene

Drugs & Compounds for SCNN1G Gene

(7) Drugs for SCNN1G Gene - From: Novoseek, DGIdb, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker, blocker, Target, inhibitor 45
Triamterene Approved Pharma blocker, Target, inhibitor 5
GS-9411 Pharma 0
P-552 Pharma 0

(1) Additional Compounds for SCNN1G Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SCNN1G: view

Transcripts for SCNN1G Gene

mRNA/cDNA for SCNN1G Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(24) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SCNN1G Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for SCNN1G Gene

No ASD Table

Relevant External Links for SCNN1G Gene

GeneLoc Exon Structure for
SCNN1G
ECgene alternative splicing isoforms for
SCNN1G

Expression for SCNN1G Gene

mRNA expression in normal human tissues for SCNN1G Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCNN1G Gene

This gene is overexpressed in Kidney - Cortex (x7.3), Colon - Transverse (x5.1), Prostate (x4.3), and Vagina (x4.2).

Protein differential expression in normal tissues from HIPED for SCNN1G Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SCNN1G Gene



SOURCE GeneReport for Unigene cluster for SCNN1G Gene Hs.371727

mRNA Expression by UniProt/SwissProt for SCNN1G Gene

P51170-SCNNG_HUMAN
Tissue specificity: Expressed in kidney (at protein level).
genes like me logo Genes that share expression patterns with SCNN1G: view

Protein tissue co-expression partners for SCNN1G Gene

Primer Products

In Situ Assay Products

Orthologs for SCNN1G Gene

This gene was present in the common ancestor of animals.

Orthologs for SCNN1G Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SCNN1G 35
  • 86.08 (n)
  • 86.96 (a)
SCNN1G 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCNN1G 35
  • 88.04 (n)
  • 90.13 (a)
SCNN1G 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scnn1g 35
  • 84.08 (n)
  • 86.29 (a)
Scnn1g 16
Scnn1g 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SCNN1G 35
  • 92.05 (n)
  • 90.36 (a)
SCNN1G 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scnn1g 35
  • 84.39 (n)
  • 86.44 (a)
oppossum
(Monodelphis domestica)
Mammalia SCNN1G 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCNN1G 36
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCNN1G 35
  • 70.75 (n)
  • 67.77 (a)
SCNN1G 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 59 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia scnn1g 35
  • 62.4 (n)
  • 59.84 (a)
African clawed frog
(Xenopus laevis)
Amphibia gamma2xENaC-A 35
worm
(Caenorhabditis elegans)
Secernentea deg-1 37
  • 27 (a)
del-1 37
  • 28 (a)
mec-10 37
  • 28 (a)
mec-4 37
  • 30 (a)
unc-105 37
  • 28 (a)
unc-8 37
  • 29 (a)
ZK770.1 37
  • 27 (a)
mec-4 35
  • 42.58 (n)
  • 33.18 (a)
asic-1 36
  • 15 (a)
ManyToMany
asic-2 36
  • 19 (a)
ManyToMany
deg-1 36
  • 17 (a)
ManyToMany
del-1 36
  • 19 (a)
ManyToMany
del-4 36
  • 22 (a)
ManyToMany
mec-10 36
  • 17 (a)
ManyToMany
mec-4 36
  • 17 (a)
ManyToMany
unc-105 36
  • 14 (a)
ManyToMany
unc-8 36
  • 17 (a)
ManyToMany
Species with no ortholog for SCNN1G:
  • 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 SCNN1G Gene

ENSEMBL:
Gene Tree for SCNN1G (if available)
TreeFam:
Gene Tree for SCNN1G (if available)

Paralogs for SCNN1G Gene

Paralogs for SCNN1G Gene

(3) SIMAP similar genes for SCNN1G Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with SCNN1G: view

Variants for SCNN1G Gene

Sequence variations from dbSNP and Humsavar for SCNN1G Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs5733 - 23,186,416(+) CCCGC(G/T)GCCGT reference, missense
rs5736 - 23,189,600(+) AAGTC(A/G)GCGGT reference, missense
VAR_015842 -
VAR_015843 -
VAR_015844 -

Variation tolerance for SCNN1G Gene

Residual Variation Intolerance Score: 21.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.19; 69.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCNN1G Gene

HapMap Linkage Disequilibrium report
SCNN1G
Human Gene Mutation Database (HGMD)
SCNN1G

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SCNN1G Gene

Disorders for SCNN1G Gene

MalaCards: The human disease database

(10) MalaCards diseases for SCNN1G Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bronchiectasis with or without elevated sweat chloride 3
  • cystic fibrosis-like syndrome
liddle syndrome
  • liddle's syndrome
pseudohypoaldosteronism, type i
  • autosomal recessive pseudohypoaldosteronism type 1
idiopathic bronchiectasis
liddle syndrome, scnn1g-related
  • liddle syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SCNNG_HUMAN
  • 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.
  • 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:7550319}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SCNN1G

Genetic Association Database (GAD)
SCNN1G
Human Genome Epidemiology (HuGE) Navigator
SCNN1G
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCNN1G
genes like me logo Genes that share disorders with SCNN1G: view

No data available for Genatlas for SCNN1G Gene

Publications for SCNN1G 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. Association of sodium channel gamma-subunit promoter variant with blood pressure. (PMID: 11463765) Iwai N. … Ogata J. (Hypertension 2001) 3 23 25 26
  3. Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. (PMID: 15547682) Ludwig M. … Reissinger A. (Int. J. Mol. Med. 2004) 23 25 26
  4. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. (PMID: 11344206) Viemann M. … Sippell W.G. (J. Clin. Endocrinol. Metab. 2001) 23 25 26
  5. Anionic phospholipids differentially regulate the epithelial sodium channel (ENaC) by interacting with alpha, beta, and gamma ENaC subunits. (PMID: 19763606) Zhang Z.R. … Ma H.P. (Pflugers Arch. 2010) 3 23

Products for SCNN1G Gene

Sources for SCNN1G Gene

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