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] See more...

Aliases for SCNN1G Gene

Aliases for SCNN1G Gene

  • Sodium Channel Epithelial 1 Subunit Gamma 2 3 5
  • Amiloride-Sensitive Sodium Channel Subunit Gamma 2 3 4
  • SCNEG 2 3 4
  • Nonvoltage-Gated Sodium Channel 1 Subunit Gamma 3 4
  • Epithelial Na(+) Channel Subunit Gamma 3 4
  • Gamma-ENaC 3 4
  • Gamma-NaCH 3 4
  • ENaCgamma 2 3
  • Amiloride-Sensitive Epithelial Sodium Channel Gamma Subunit 3
  • Sodium Channel, Non-Voltage-Gated 1, Gamma Subunit 3
  • Sodium Channel, Non Voltage Gated 1 Gamma Subunit 2
  • Amiloride-Sensitive Sodium Channel Gamma-Subunit 3
  • Sodium Channel Epithelial 1 Gamma Subunit 3
  • Sodium Channel, Nonvoltage-Gated 1, Gamma 3
  • Sodium Channe Epithelial 1 Gamma Subunit 3
  • ENaC Gamma Subunit 3
  • SCNN1G 5
  • BESC3 3
  • ENaCg 3
  • LDLS2 3
  • ENaCG 4
  • 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 Subunit Gamma) is a Protein Coding gene. Diseases associated with SCNN1G include Bronchiectasis With Or Without Elevated Sweat Chloride 3 and Liddle Syndrome 2. Among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Ion channel transport. Gene Ontology (GO) annotations related to this gene include ion channel activity and sodium channel activity. An important paralog of this gene is SCNN1B.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SCNN1G Gene

Genomics for SCNN1G Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SCNN1G Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J023182 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 250.7 +1.2 1156 3.8 ZIC2 MXD4 REST ZNF592 CTCF SIN3A THAP11 KLF9 SMAD4 ZNF511 SCNN1G USP31 ENSG00000261723 NPIPB5 PALB2 ENSG00000260905 SCNN1B MFSD13B GGA2 ENSG00000260635
GH16J023141 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -36.9 -36904 9.1 BCLAF1 SP1 MYC ZNF600 IKZF1 SIX5 SSRP1 ZNF580 ZMYM3 CEBPA USP31 NPIPB5 COG7 PALB2 SMG1P1 ENSG00000260635 ENSG00000260751 POLR3E SCNN1G ENSG00000260905
GH16J023434 Enhancer 0.9 Ensembl ENCODE 12.1 +252.8 252777 2.6 ZNF654 MXD4 CTCF REST ZNF592 TRIM22 CHD2 FOXA2 ZNF511 RAD21 DCTN5 NPIPB5 ENSG00000261723 SMG1P1 SCNN1G PALB2 UBFD1 GGA2 ENSG00000212593 RF00017-1801
GH16J023200 Enhancer 0.3 Ensembl ENCODE 6.9 +18.5 18456 1.6 SCNN1G MF281430-025 ENSG00000260741 SCNN1B
GH16J023204 Enhancer 0.2 Ensembl 12.5 +22.5 22456 0.4 SCNN1G ENSG00000260741 MF281430-025 SCNN1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SCNN1G on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SCNN1G

Top Transcription factor binding sites by QIAGEN in the SCNN1G gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • AREB6
  • GR
  • GR-alpha
  • GR-beta
  • Lmo2

Genomic Locations for SCNN1G Gene

Latest Assembly
chr16:23,182,745-23,216,883
(GRCh38/hg38)
Size:
34,139 bases
Orientation:
Plus strand

Previous Assembly
chr16:23,194,066-23,228,204
(GRCh37/hg19 by Entrez Gene)
Size:
34,139 bases
Orientation:
Plus strand

chr16:23,194,036-23,228,204
(GRCh37/hg19 by Ensembl)
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).

    Three dimensional structures from OCA and Proteopedia for SCNN1G Gene

neXtProt entry for SCNN1G Gene

Post-translational modifications for SCNN1G Gene

  • 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.
  • 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.
  • Glycosylation at Asn209 and Asn497
  • Modification sites at PhosphoSitePlus

Other Protein References for SCNN1G Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SCNN1G Gene

Domains & Families for SCNN1G Gene

Gene Families for SCNN1G Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SCNN1G Gene

InterPro:
Blocks:
  • Na+ channel, amiloride-sensitive

Suggested Antigen Peptide Sequences for SCNN1G Gene

GenScript: Design optimal peptide antigens:
  • Sodium channel, nonvoltage-gated 1, gamma, isoform CRA_a (A5X2V1_HUMAN)
  • Amiloride-sensitive epithelial sodium channel gamma subunit (Q6LA62_HUMAN)
  • Amiloride-sensitive epithelial sodium channel gamma subunit (Q6LCK3_HUMAN)
  • Amiloride-sensitive epithelial sodium channel gamma subunit (Q6LCK4_HUMAN)
  • Amiloride-sensitive epithelial sodium channel gamma subunit (Q6LCK5_HUMAN)

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

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.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by WNK1, WNK2, WNK3 and WNK4.
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

Phenotypes From GWAS Catalog for SCNN1G Gene

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 TAS,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

Human Phenotype Ontology for SCNN1G Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCNN1G Gene

MGI Knock Outs for SCNN1G:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCNN1G

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SCNN1G gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 4
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SCNN1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS,IDA 24124190
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SCNN1G: view

Pathways & Interactions for SCNN1G Gene

PathCards logo

SuperPathways for SCNN1G Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.56
2 Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
.47
.40
3 Ion channel transport
4 Aldosterone-regulated sodium reabsorption
5 Taste transduction
genes like me logo Genes that share pathways with SCNN1G: view

Pathways by source for SCNN1G Gene

2 GeneGo (Thomson Reuters) pathways for SCNN1G Gene
  • CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
  • NO-dependent CFTR activation (normal and CF)
7 Qiagen pathways for SCNN1G Gene
  • Activation of cAMP-Dependent PKA
  • Aldosterone Signaling in Epithelial Cells
  • cAMP Pathway
  • Cholera Infection
  • GHRH Signaling

SIGNOR curated interactions for SCNN1G Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SCNN1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
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
genes like me logo Genes that share ontologies with SCNN1G: view

Drugs & Compounds for SCNN1G Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Target, inhibitor, blocker 61
Triamterene Approved Pharma Target, inhibitor, blocker 6
Lithium carbonate Approved Pharma Transporter Mood stabilizer; inhibits Na+/K+ ATPase pump activity 318
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
  • Na(+)
  • Na+
  • SODIUM ion
  • Sodium(1+)
7440-23-5

(1) ApexBio Compounds for SCNN1G Gene

Compound Action Cas Number
Amiloride HCl 2016-88-8
genes like me logo Genes that share compounds with SCNN1G: view

Drug products for research

Transcripts for SCNN1G Gene

mRNA/cDNA for SCNN1G Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SCNN1G

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

No ASD Table

Relevant External Links for SCNN1G Gene

GeneLoc Exon Structure for
SCNN1G

Expression for SCNN1G Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for SCNN1G Gene



Protein tissue co-expression partners for SCNN1G Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SCNN1G

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).

Evidence on tissue expression from TISSUES for SCNN1G Gene

  • Kidney(4.7)
  • Lung(4.4)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SCNN1G Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • bronchus
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • rectum
  • ureter
  • urinary bladder
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with SCNN1G: view

Primer products for research

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 29 30
  • 92.05 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SCNN1G 29 30
  • 88.04 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SCNN1G 29 30
  • 86.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Scnn1g 29
  • 84.39 (n)
Mouse
(Mus musculus)
Mammalia Scnn1g 29 16 30
  • 84.08 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SCNN1G 30
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SCNN1G 30
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SCNN1G 29 30
  • 70.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 59 (a)
OneToMany
-- 30
  • 57 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia scnn1g 29
  • 62.4 (n)
African clawed frog
(Xenopus laevis)
Amphibia gamma2xENaC-A 29
Worm
(Caenorhabditis elegans)
Secernentea mec-4 29 30 31
  • 42.58 (n)
ManyToMany
ZK770.1 31
  • 27 (a)
del-4 30
  • 22 (a)
ManyToMany
asic-2 30
  • 19 (a)
ManyToMany
del-1 30 31
  • 19 (a)
ManyToMany
unc-8 30 31
  • 17 (a)
ManyToMany
mec-10 30 31
  • 17 (a)
ManyToMany
deg-1 30 31
  • 17 (a)
ManyToMany
asic-1 30
  • 15 (a)
ManyToMany
unc-105 30 31
  • 14 (a)
ManyToMany
Species where no ortholog for SCNN1G was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SCNN1G: view image
Alliance of Genome Resources:
Additional Orthologs for SCNN1G

Paralogs for SCNN1G Gene

Paralogs for SCNN1G Gene

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

  • SCNNG_HUMAN
  • A5X2V1_HUMAN
  • Q6LA62_HUMAN
  • Q6LCK3_HUMAN
  • Q6LCK4_HUMAN
  • Q6LCK5_HUMAN
  • Q6LCK6_HUMAN
genes like me logo Genes that share paralogs with SCNN1G: view

Variants for SCNN1G Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SCNN1G Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
1034392 Uncertain Significance: Bronchiectasis with or without elevated sweat chloride 3 23,212,141(+) C/T
NM_001039.4(SCNN1G):c.1284C>T (p.His428=)
SYNONYMOUS
884265 Uncertain Significance: Autosomal recessive pseudohypoaldosteronism type 1; Liddle syndrome 2 23,216,742(+) C/T
NM_001039.4(SCNN1G):c.*1273C>T
THREE_PRIME_UTR
884266 Uncertain Significance: Autosomal recessive pseudohypoaldosteronism type 1; Liddle syndrome 2 23,216,756(+) C/T
NM_001039.4(SCNN1G):c.*1287C>T
THREE_PRIME_UTR
885119 Uncertain Significance: Autosomal recessive pseudohypoaldosteronism type 1; Liddle syndrome 2 23,186,319(+) C/T
NM_001039.4(SCNN1G):c.48C>T (p.Pro16=)
SYNONYMOUS
885190 Uncertain Significance: Autosomal recessive pseudohypoaldosteronism type 1; Liddle syndrome 2 23,189,642(+) G/C
NM_001039.4(SCNN1G):c.589G>C (p.Glu197Gln)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SCNN1G Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SCNN1G Gene

Human Gene Mutation Database (HGMD)
SCNN1G
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SCNN1G
Leiden Open Variation Database (LOVD)
SCNN1G

SNP Genotyping and Copy Number Assays for research

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

(18) MalaCards diseases for SCNN1G Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

UniProtKB/Swiss-Prot

SCNNG_HUMAN
  • Liddle syndrome 2 (LIDLS2) [MIM:618114]: A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion. {ECO:0000269 PubMed:12473862, ECO:0000269 PubMed:17634077, ECO:0000269 PubMed:7550319}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for SCNN1G

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 22 40
  2. Could a defective epithelial sodium channel lead to bronchiectasis. (PMID: 18507830) Fajac I … Bienvenu T (Respiratory research 2008) 3 4 22 72
  3. Association of sodium channel gamma-subunit promoter variant with blood pressure. (PMID: 11463765) Iwai N … Ogata J (Hypertension (Dallas, Tex. : 1979) 2001) 3 22 25 40
  4. 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
  5. Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. (PMID: 18443236) Tobin MD … Samani NJ (Hypertension (Dallas, Tex. : 1979) 2008) 3 22 40

Products for SCNN1G Gene

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