SCNN1G sodium channel epithelial 1 subunit gamma [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCNN1Gprovided by HGNC
Official Full Name: sodium channel epithelial 1 subunit gammaprovided by HGNC
Primary source: HGNC:HGNC:10602
See related: Ensembl:ENSG00000166828 MIM:600761; AllianceGenome:HGNC:10602
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; LDLS2; SCNEG; PHA1B3; 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]
Expression: Biased expression in kidney (RPKM 29.9), salivary gland (RPKM 4.7) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p12.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (23182745..23216883)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (23458746..23492881)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (23194066..23228204)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Aberrant inactivation of SCNN1G promotes the motility of head and neck squamous cell carcinoma.
Title: Aberrant inactivation of SCNN1G promotes the motility of head and neck squamous cell carcinoma.
gammaENaC/CD9 in urinary extracellular vesicles as a potential biomarker of MR activity.
Title: γENaC/CD9 in urinary extracellular vesicles as a potential biomarker of MR activity.
Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension.
Title: Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension.
DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes.
Title: DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes.
Phosphatidylinositol 4,5-bisphosphate directly interacts with the beta and gamma subunits of the sodium channel ENaC.
Title: Phosphatidylinositol 4,5-bisphosphate directly interacts with the β and γ subunits of the sodium channel ENaC.
Liddle syndrome due to a novel mutation in the gamma subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.
Title: Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.
Campylobacter concisus Impairs Sodium Absorption in Colonic Epithelium via ENaC Dysfunction and Claudin-8 Disruption.
Title: Campylobacter concisus Impairs Sodium Absorption in Colonic Epithelium via ENaC Dysfunction and Claudin-8 Disruption.
SCNN1G was not associated with Salt Sensitivity of Blood Pressure in rare variant analyses.
Title: Resequencing Epithelial Sodium Channel Genes Identifies Rare Variants Associated With Blood Pressure Salt-Sensitivity: The GenSalt Study.
Albuminuria in kidney transplant recipients is associated with hypertension, ability of urine to proteolytically activate ENaC current, and increased abundance of gammaENaC.
Title: Albuminuria in kidney transplant recipients is associated with increased urinary serine proteases and activation of the epithelial sodium channel.
Proteolytic cleavage activates epithelial sodium channel (SCNN) by removal of specific segments in finger domains of alpha and gamma subunits. Data suggest that the lower "palm" domain of SCNN1A is essential for allosteric activation of the SCNN heterotetramer [SCNN1A(1)-SCNN1B-SCNN1A(2)-SCNN1G].
Title: Mapping allosteric linkage to channel gating by extracellular domains in the human epithelial sodium channel.

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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

Associated conditions

Description	Tests
Bronchiectasis with or without elevated sweat chloride 3 MedGen: C2751324 OMIM: 613071 GeneReviews: Not available	Compare labs
Liddle syndrome 2 MedGen: C4748251 OMIM: 618114 GeneReviews: Not available	Compare labs
Pseudohypoaldosteronism, type IB3, autosomal recessive MedGen: C5774256 OMIM: 620126 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables WW domain binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ligand-gated sodium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic ion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to acidic pH	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to aldosterone	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to vasopressin	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in multicellular organismal-level water homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of blood pressure	NAS Non-traceable Author Statement more info	PubMed
involved_in sensory perception of salty taste	NAS Non-traceable Author Statement more info	PubMed
involved_in sensory perception of sour taste	NAS Non-traceable Author Statement more info	PubMed
involved_in sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of sodium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of sodium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of sodium channel complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: amiloride-sensitive sodium channel subunit gamma

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

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.