SCNN1G sodium channel, non-voltage-gated 1, gamma subunit [Homo sapiens (human)] - Gene

Summary

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Official Symbol: SCNN1Gprovided by HGNC
Official Full Name: sodium channel, non-voltage-gated 1, gamma subunitprovided by HGNC
Primary source: HGNC:10602
See related: Ensembl:ENSG00000166828; HPRD:02862; MIM:600761; Vega:OTTHUMG00000131609
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PHA1; BESC3; ENaCg; SCNEG; ENaCgamma
Summary: 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]

Genomic context

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Location :: 16p12

Sequence :: Chromosome: 16; NC_000016.9 (23194040..23228200)

See SCNN1G in Epigenomics, MapViewer

Chromosome 16 - NC_000016.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

These results suggest that the mutant gammaL511Q enhances ENaC activity by increasing channel open probability and dampens channel regulation by extracellular Na(+) and proteases.
Title: Gain-of-function variant of the human epithelial sodium channel.
analysis of eight extracellular domain residues in human beta- and gammaENaC that are required for regulation by acidic pH
Title: Identification of extracellular domain residues required for epithelial Na+ channel activation by acidic pH.
Mutating two valine residues (V182 and V193) in the critical region of gammaENaC prevented proteolytic activation of ENaC by Cat-S.
Title: Proteolytic activation of the epithelial sodium channel (ENaC) by the cysteine protease cathepsin-S.
study found that rhinovirus (RV) infection of primary human nasal epithelial cells enhanced the expression of CFTR, alpha-ENaC, beta-ENaC, and gamma-ENaC mRNA and protein; upregulated CFTR might be dysfunctional, whereas RV-upregulated ENaC was hyperfunctional
Title: Effects of rhinovirus infection on the expression and function of cystic fibrosis transmembrane conductance regulator and epithelial sodium channel in human nasal mucosa.
ENaC on motile cilia should be essential for diverse functions of motile cilia, such as germ cell transport, fertilization, implantation, clearance of respiratory airways and cell migration.
Title: Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways.
All four ENaC subunits (alphabetagammadelta) are expressed in the normal human eye, with distinct localization of subunits possibly reflecting different functional states of the channel.
Title: Four subunits (αβγδ) of the epithelial sodium channel (ENaC) are expressed in the human eye in various locations.
variants of ENaC subunits may contribute to the variation of BP response to dietary sodium intake
Title: Common variants in epithelial sodium channel genes contribute to salt sensitivity of blood pressure: The GenSalt study.
The intronic single-nucleotide polymorphism of SCNN1G (rs13331086) was significantly positively associated with higher blood pressure and urinary potassium excretion in 4 white European cohorts.
Title: The epithelial sodium channel γ-subunit gene and blood pressure: family based association, renal gene expression, and physiological analyses.
Data show that response to apical fluid volume expansion in H441 airway epithelial cells involves cleavage of gammaENaC, and changes in alpha- and gammaENaC protein abundance at the apical membrane.
Title: Cleavage of endogenous γENaC and elevated abundance of αENaC are associated with increased Na⁺ transport in response to apical fluid volume expansion in human H441 airway epithelial cells.
Identify the specific domains of epithelial sodium channels that are responsible for the differences in the response to flow of alphabetagamma and deltabetagamma channels.
Title: Second transmembrane domain modulates epithelial sodium channel gating in response to shear stress.

Submit: New GeneRIF Correction See all (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P51170	P28482	MAPK1	HPRD	PubMed
P51170	P46934	NEDD4	HPRD	PubMed
P51170	Q96PU5	NEDD4L	HPRD	PubMed
P51170	P37088	SCNN1A	HPRD	PubMed
P51170	P51168	SCNN1B	HPRD	PubMed
P51170	P51172	SCNN1D	HPRD	PubMed
P51170	Q16623	STX1A	HPRD	PubMed
P51170	O00308	WWP2	HPRD	PubMed
BioGRID:112244	BioGRID:115364	AP1M2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112244	BioGRID:127317	COMMD1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112244	BioGRID:118965	EPN1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:112244	BioGRID:110811	NEDD4	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Far Western; Reconstituted Complex
BioGRID:112244	BioGRID:116915	NEDD4L	BioGRID	PubMed	Affinity Capture-Western; Far Western; Protein-peptide
BioGRID:112244	BioGRID:112242	SCNN1B	BioGRID	PubMed	PCA
BioGRID:112244	BioGRID:118079	SERP1	BioGRID	PubMed	PCA
BioGRID:112244	BioGRID:112676	STX1A	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:112244	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:112244	BioGRID:114553	USP2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112244	BioGRID:116244	WWP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:112244	BioGRID:98801	ubc	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Aldosterone-regulated sodium reabsorption, organism-specific biosystem (from KEGG)
Aldosterone-regulated sodium reabsorption, organism-specific biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
Aldosterone-regulated sodium reabsorption, conserved biosystem (from KEGG)
Aldosterone-regulated sodium reabsorption, conserved biosystemSodium transport across the tight epithelia of Na+ reabsorbing tissues such as the distal part of the kidney nephron and colon is the major factor determining total-body Na+ levels, and thus, long-te...
Ion channel transport, organism-specific biosystem (from REACTOME)
Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
Taste transduction, organism-specific biosystem (from KEGG)
Taste transduction, organism-specific biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
Taste transduction, conserved biosystem (from KEGG)
Taste transduction, conserved biosystemAll taste pathways are proposed to converge on common elements that mediate a rise in intracellular Ca2+ followed by neurotransmitter release. Na+ salt depolarizes taste cells by passive influx of Na...
Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
Transmembrane transport of small molecules, organism-specific biosystem
Transmembrane transport of small molecules

General gene information

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Markers

SHGC-61004 (e-PCR)
- UniSTS:8733

SHGC-61048 (e-PCR)
- UniSTS:30237

Genotypes

See SCNN1G SNP Geneview Report
See SCNN1G SNP Genotype Report
See SCNN1G SNP Variation Viewer Report

Homology

Homologs of the SCNN1G gene: The SCNN1G gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
WW domain binding	IPI Inferred from Physical Interaction more info	PubMed
ligand-gated sodium channel activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sodium channel activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
excretion	TAS Traceable Author Statement more info	PubMed
ion transmembrane transport	TAS Traceable Author Statement more info
response to stimulus	IEA Inferred from Electronic Annotation more info
sensory perception of taste	IEA Inferred from Electronic Annotation more info
sodium ion transport	TAS Traceable Author Statement more info	PubMed
transmembrane transport	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
apical plasma membrane	IEA Inferred from Electronic Annotation more info
external side of plasma membrane	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
sodium channel complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: amiloride-sensitive sodium channel subunit gamma

Names: amiloride-sensitive sodium channel subunit gamma; gamma-ENaC; gamma-NaCH; ENaC gamma subunit; epithelial Na(+) channel subunit gamma; sodium channel, nonvoltage-gated 1, gamma; nonvoltage-gated sodium channel 1 subunit gamma; amiloride-sensitive sodium channel gamma-subunit; amiloride-sensitive epithelial sodium channel gamma subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011909.1 RefSeqGene

Range

5001..39161

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001039.3 → NP_001030.2 amiloride-sensitive sodium channel subunit gamma

Status: REVIEWED

Source sequence(s)

BC059391, X87160

Consensus CDS

CCDS10608.1

UniProtKB/TrEMBL

A5X2V1

UniProtKB/Swiss-Prot

P51170

Related

ENSP00000300061, OTTHUMP00000162369, ENST00000300061, OTTHUMT00000254496

Conserved Domains (1) summary

TIGR00859
Location:24 – 630
Blast Score: 2095

ENaC; sodium channel transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000016.9 Reference GRCh37.p10 Primary Assembly

Range

23194040..23228200

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000148.1 Alternate HuRef

Range

21283200..21317389

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018927.1 Alternate CHM1_1.0

Range

24093830..24127925

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01017824.1 (9808..43997)	None
genomic	AC099482.3 (30711..64871)	None
genomic	AF356502.1	AAK50910.1
genomic	AMYH01007381.1 (33287..67382)	None
genomic	CH471145.2	EAW55837.1
		EAW55838.1
genomic	FJ515832.1	ACS13725.1
genomic	U35630.1	AAC50217.1
genomic	U48937.2	None
genomic	U53836.1	AAC50744.1
genomic	U53837.1	AAC50745.1
genomic	U53839.1	AAC50747.1
genomic	U53841.1	AAC50749.1
genomic	U53844.1	AAC50752.1
genomic	U53845.1	AAC50753.1
genomic	U53846.1	AAC50754.1
genomic	U53847.1	AAC50755.1
genomic	U53848.1	AAC50756.1
genomic	U53849.1	AAC50757.1
genomic	U53850.1	AAC50758.1
genomic	U53852.1	AAC50760.1
genomic	U53853.1	AAC50761.1
mRNA	BC059391.1	AAH59391.1
mRNA	BC069652.1	AAH69652.1
mRNA	DQ402524.1	ABD72220.1
mRNA	L36592.1	AAA75460.1
mRNA	U48936.1	AAC50737.1
mRNA	X87160.1	CAA60633.1