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Aliases for SCNN1G Gene

Aliases for SCNN1G Gene

  • Sodium Channel, Non Voltage Gated 1 Gamma Subunit 2 3
  • 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
  • Epithelial Na(+) Channel Subunit Gamma 3 4
  • Gamma-ENaC 3 4
  • Gamma-NaCH 3 4
  • ENaCg 3 4
  • BESC3 3 6
  • SCNEG 3 4
  • PHA1 3 6
  • Amiloride-Sensitive Epithelial Sodium Channel Gamma Subunit 3
  • Amiloride-Sensitive Sodium Channel Gamma-Subunit 3
  • Amiloride-Sensitive Sodium Channel Subunit Gamma 3
  • Sodium Channel, Non-Voltage-Gated 1, Gamma 2
  • ENaC Gamma Subunit 3
  • ENaCgamma 3

External Ids for SCNN1G Gene

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, Non Voltage Gated 1 Gamma Subunit) is a Protein Coding gene. Diseases associated with SCNN1G include bronchiectasis with or without elevated sweat chloride 3 and miliaria rubra. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include WW domain binding and ligand-gated 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

Genomic Location for SCNN1G Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SCNN1G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCNN1G Gene

Regulatory Elements 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:
    • Probable heterotrimer containing one alpha, one beta and one gamma subunit (PubMed:7490094). A delta subunit also exists in some organisms and can replace the alpha subunit to form alternative channels (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
  • Glycosylation at Asn209, Asn248, Asn271, Asn291, and Asn497

Other Protein References for SCNN1G Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SCNN1G Gene

Domains for SCNN1G Gene

Gene Families for SCNN1G Gene

HGNC:
  • SC :Sodium channels
  • SCNN :Ion channels / Sodium channel, nonvoltage-gated
IUPHAR :

Protein Domains for SCNN1G Gene

UniProtKB/Swiss-Prot:

SCNNG_HUMAN
Family:
  • Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1G subfamily.:
    • P51170
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:0005216 ion channel activity IMP 22864553
GO:0005272 sodium channel activity TAS 8521520
GO:0005515 protein binding IPI 11244092
GO:0015280 contributes_to ligand-gated sodium channel activity IDA 24124190
GO:0050699 WW domain binding IPI 10642508
genes like me logo Genes that share ontologies with SCNN1G: view
genes like me logo Genes that share phenotypes with SCNN1G: view

Animal Models for SCNN1G Gene

MGI Knock Outs for SCNN1G:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
plasma membrane 5
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SCNN1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 24124190
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with SCNN1G: view

Pathways 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:0006814 sodium ion transport TAS 8521520
GO:0007588 excretion TAS 8640238
GO:0034220 ion transmembrane transport TAS --
GO:0035725 sodium ion transmembrane transport IDA 24124190
GO:0050891 multicellular organismal water homeostasis IDA 24124190
genes like me logo Genes that share ontologies with SCNN1G: view

Compounds for SCNN1G Gene

(2) HMDB Compounds for SCNN1G Gene

Compound Synonyms Cas Number PubMed IDs
Sodium
  • Sodium
7440-23-5
Triamterene
  • 6-Phenyl-2,4,7-triaminopteridine
396-01-0

(2) Drugbank Compounds for SCNN1G Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amiloride
  • Amilorida [INN-Spanish]
2016-88-8 target inhibitor
Triamterene
396-01-0 target inhibitor

(4) Novoseek inferred chemical compound relationships for SCNN1G Gene

Compound -log(P) Hits PubMed IDs
sodium 72.9 13
progesterone 0 1
tyrosine 0 1
cysteine 0 1
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 (7.3), Colon - Transverse (5.1), Prostate (4.3), and Vagina (4.2).

Integrated Proteomics: protein expression 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 expressions with SCNN1G: view

Orthologs for SCNN1G Gene

This gene was present in the common ancestor of animals.

Orthologs for SCNN1G Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCNN1G 36
  • 92.05 (n)
  • 90.36 (a)
SCNN1G 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SCNN1G 36
  • 86.08 (n)
  • 86.96 (a)
SCNN1G 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCNN1G 36
  • 88.04 (n)
  • 90.13 (a)
SCNN1G 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scnn1g 36
  • 84.08 (n)
  • 86.29 (a)
Scnn1g 16
Scnn1g 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCNN1G 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCNN1G 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scnn1g 36
  • 84.39 (n)
  • 86.44 (a)
chicken
(Gallus gallus)
Aves SCNN1G 36
  • 70.75 (n)
  • 67.77 (a)
SCNN1G 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 59 (a)
OneToMany
-- 37
  • 57 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia gamma2xENaC-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia scnn1g 36
  • 62.4 (n)
  • 59.84 (a)
worm
(Caenorhabditis elegans)
Secernentea asic-1 37
  • 15 (a)
ManyToMany
asic-2 37
  • 19 (a)
ManyToMany
deg-1 37
  • 17 (a)
ManyToMany
del-1 37
  • 19 (a)
ManyToMany
del-4 37
  • 22 (a)
ManyToMany
mec-10 37
  • 17 (a)
ManyToMany
mec-4 36
  • 42.58 (n)
  • 33.18 (a)
mec-4 37
  • 17 (a)
ManyToMany
unc-105 37
  • 14 (a)
ManyToMany
unc-8 37
  • 17 (a)
ManyToMany
unc-8 38
  • 29 (a)
unc-105 38
  • 28 (a)
deg-1 38
  • 27 (a)
del-1 38
  • 28 (a)
mec-10 38
  • 28 (a)
mec-4 38
  • 30 (a)
ZK770.1 38
  • 27 (a)
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

Selected 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 MAF
rs3026 -- 23,215,628(+) GGGCC(G/T)GGGCA utr-variant-3-prime
rs5718 -- 23,182,544(+) GGAAG(A/G)CGCAG upstream-variant-2KB
rs5719 -- 23,182,613(+) GGCCC(G/T)CTCCG upstream-variant-2KB
rs5720 -- 23,182,875(+) TGCCG(A/G)GCGCC intron-variant
rs5721 -- 23,182,929(+) TCAGC(C/G)GGTGG intron-variant

Relevant External Links for SCNN1G Gene

HapMap Linkage Disequilibrium report
SCNN1G
Human Gene Mutation Database (HGMD)
SCNN1G
Locus Specific Mutation Databases (LSDB)
SCNN1G

No data available for Structural Variations from Database of Genomic Variants (DGV) for SCNN1G Gene

Disorders for SCNN1G Gene

(3) OMIM Diseases for SCNN1G Gene (600761)

UniProtKB/Swiss-Prot

SCNNG_HUMAN
  • Liddle syndrome (LIDDS) [MIM:177200]: Autosomal dominant disorder characterized by pseudoaldosteronism and hypertension associated with hypokalemic alkalosis. The disease is caused by constitutive activation of the renal epithelial sodium channel. {ECO:0000269 PubMed:7550319}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

(5) Novoseek inferred disease relationships for SCNN1G Gene

Disease -log(P) Hits PubMed IDs
pseudohypoaldosteronism 95.9 18
liddles syndrome 93.7 9
hyperkalemia 64.1 4
metabolic acidosis 48 4
hypotension 38.7 4

Relevant External Links for SCNN1G

Genetic Association Database (GAD)
SCNN1G
Human Genome Epidemiology (HuGE) Navigator
SCNN1G
genes like me logo Genes that share disorders with SCNN1G: view

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 49
  2. Association of sodium channel gamma-subunit promoter variant with blood pressure. (PMID: 11463765) Iwai N. … Ogata J. (Hypertension 2001) 3 23 25 49
  3. Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. (PMID: 18443236) Tobin M.D. … Samani N.J. (Hypertension 2008) 3 23 49
  4. Could a defective epithelial sodium channel lead to bronchiectasis. (PMID: 18507830) Fajac I. … Bienvenu T. (Respir. Res. 2008) 3 4 23
  5. Cloning, chromosomal localization, and physical linkage of the beta and gamma subunits (SCNN1B and SCNN1G) of the human epithelial amiloride-sensitive sodium channel. (PMID: 7490094) Voilley N. … Barbry P. (Genomics 1995) 2 3 4

Products for SCNN1G Gene

Sources for SCNN1G Gene

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