Scnn1g sodium channel, nonvoltage-gated 1 gamma [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Scnn1gprovided by MGI
Official Full Name: sodium channel, nonvoltage-gated 1 gammaprovided by MGI
Primary source: MGI:MGI:104695
See related: Ensembl:ENSMUSG00000000216 AllianceGenome:MGI:104695
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SCNEG
Summary: This gene encodes the gamma subunit of the epithelial sodium channel, a member of the amiloride-sensitive sodium channel family of proteins. This channel regulates sodium homeostasis and blood pressure, by controlling sodium transport in the kidney, colon and lung. Proteolytic processing of the encoded protein results in the release of an inhibitory peptide and channel activation. Homozygous knockout mice for this gene exhibit perinatal lethality, likely due to excess serum potassium. [provided by RefSeq, Oct 2015]
Expression: Biased expression in lung adult (RPKM 55.1), kidney adult (RPKM 20.3) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 7 F2; 7 65.07 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (121333643..121367705)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (121734420..121768482)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deletion of the Gamma Subunit of ENaC in Endothelial Cells Does Not Protect against Renal Ischemia Reperfusion Injury.
Title: Deletion of the Gamma Subunit of ENaC in Endothelial Cells Does Not Protect against Renal Ischemia Reperfusion Injury.
Salt sensitivity of volume and blood pressure in a mouse with globally reduced ENaC gamma-subunit expression.
Title: Salt sensitivity of volume and blood pressure in a mouse with globally reduced ENaC γ-subunit expression.
Endothelial epithelial sodium channel involves in high-fat diet-induced atherosclerosis in low-density lipoprotein receptor-deficient mice.
Title: Endothelial epithelial sodium channel involves in high-fat diet-induced atherosclerosis in low-density lipoprotein receptor-deficient mice.
Interaction between Epithelial Sodium Channel gamma-Subunit and Claudin-8 Modulates Paracellular Sodium Permeability in Renal Collecting Duct.
Title: Interaction between Epithelial Sodium Channel γ-Subunit and Claudin-8 Modulates Paracellular Sodium Permeability in Renal Collecting Duct.
Apical fluid shear stress specifically downregulates beta-ENaC and gamma-ENaC subunits at the transcriptional level through an unidentified heat-insensitive paracrine basolateral factor in collecting duct principal cells.
Title: Uninephrectomy and apical fluid shear stress decrease ENaC abundance in collecting duct principal cells.
the results of the present study demonstrated that insulin protected the lung epithelium and attenuated pulmonary edema through the upregulation of ENaC via the PI3K/SGK1 pathway in LPSinduced lung injury.
Title: Insulin ameliorates pulmonary edema through the upregulation of epithelial sodium channel via the PI3K/SGK1 pathway in mice with lipopolysaccharide‑induced lung injury.
Casein kinase 2 phosphorylation is an important regulator of ENaC activity and sodium handling by the aldosterone sensitive distal nephron.
Title: Physiological regulation of the epithelial Na(+) channel by casein kinase II.
N-linked glycans on each subunit are required for proper folding, maturation, surface expression, and function of the epithelial sodium channel.
Title: N-linked glycans are required on epithelial Na(+) channel subunits for maturation and surface expression.
The derlin-1 pathway therefore may represent a significant early checkpoint in the recognition and degradation of ENaC in mammalian cells.
Title: Derlin-1 promotes ubiquitylation and degradation of the epithelial Na(+) channel, ENaC.
ENaC and ROMK channel activity in kidney tubules are inhibited in TgWnk4(pseudoaldosteronism type II) mice. Wnk4(PHAII)-induced inhibition of ENaC and ROMK may contribute to the suppression of K(+) secretion in the tubules.
Title: ENaC and ROMK activity are inhibited in the DCT2/CNT of TgWnk4(PHAII) mice.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables WW domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables WW domain binding	ISO Inferred from Sequence Orthology more info
enables ligand-gated sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ligand-gated sodium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables ligand-gated sodium channel activity	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to ligand-gated sodium channel activity	ISO Inferred from Sequence Orthology more info
enables ligand-gated sodium channel activity	ISO Inferred from Sequence Orthology more info
enables monoatomic ion channel activity	ISO Inferred from Sequence Orthology more info
contributes_to sodium channel activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to sodium ion transmembrane transporter activity	ISO Inferred from Sequence Orthology more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to acidic pH	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to aldosterone	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 intracellular sodium ion homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in multicellular organismal-level water homeostasis	ISO Inferred from Sequence Orthology more info
involved_in regulation of blood pressure	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of_or_within sensory perception of taste	IEA Inferred from Electronic Annotation more info
involved_in sodium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in sodium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sodium ion transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within sodium ion transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in sodium ion transport	ISO Inferred from Sequence Orthology more info
involved_in wound healing, spreading of epidermal cells	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
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	IGI Inferred from Genetic Interaction more info	PubMed
part_of sodium channel complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: amiloride-sensitive sodium channel subunit gamma

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

mRNA and Protein(s)

NM_011326.3 → NP_035456.1 amiloride-sensitive sodium channel subunit gamma

See identical proteins and their annotated locations for NP_035456.1

Status: REVIEWED

Source sequence(s)

AC165081, AF112187, BP767443

Consensus CDS

CCDS21803.1

UniProtKB/Swiss-Prot

Q9WU39

UniProtKB/TrEMBL

Q3UNU3

Related

ENSMUSP00000000221.6, ENSMUST00000000221.6

Conserved Domains (2) summary

TIGR00859
Location:24 → 636

ENaC; sodium channel transporter

TIGR00867
Location:32 → 557

deg-1; degenerin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

121333643..121367705

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006507477.4 → XP_006507540.1 amiloride-sensitive sodium channel subunit gamma isoform X1

UniProtKB/TrEMBL

Q3UNU3

Conserved Domains (1) summary

TIGR00859
Location:2 → 489

ENaC; sodium channel transporter