Scnn1b sodium channel, nonvoltage-gated 1 beta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Scnn1bprovided by MGI
Official Full Name: sodium channel, nonvoltage-gated 1 betaprovided by MGI
Primary source: MGI:MGI:104696
See related: Ensembl:ENSMUSG00000030873 AllianceGenome:MGI:104696
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables WW domain binding activity and ligand-gated sodium channel activity. Contributes to sodium channel activity. Acts upstream of or within several processes, including cellular response to aldosterone; leukocyte activation involved in inflammatory response; and monovalent inorganic cation homeostasis. Located in external side of plasma membrane. Is integral component of membrane. Part of plasma membrane protein complex and sodium channel complex. Is expressed in several structures, including aorta; endocrine gland; genitourinary system; lung; and stomach. Used to study Liddle syndrome; autosomal recessive pseudohypoaldosteronism type 1; and cystic fibrosis. Human ortholog(s) of this gene implicated in Liddle syndrome; autosomal recessive pseudohypoaldosteronism type 1; bronchiectasis 1; and pseudohypoaldosteronism. Orthologous to human SCNN1B (sodium channel epithelial 1 subunit beta). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in lung adult (RPKM 59.5), kidney adult (RPKM 28.0) and 6 other tissues 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 (121464261..121517951)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (121865038..121918728)

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?

Neutrophil extracellular traps are present in the airways of ENaC-overexpressing mice with cystic fibrosis-like lung disease.
Title: Neutrophil extracellular traps are present in the airways of ENaC-overexpressing mice with cystic fibrosis-like lung disease.
Postnatal Ozone Exposure Disrupts Alveolar Development, Exaggerates Mucoinflammatory Responses, and Suppresses Bacterial Clearance in Developing Scnn1b-Tg(+) Mice Lungs.
Title: Postnatal Ozone Exposure Disrupts Alveolar Development, Exaggerates Mucoinflammatory Responses, and Suppresses Bacterial Clearance in Developing Scnn1b-Tg(+) Mice Lungs.
The SPLUNC1-betaENaC complex prevents Burkholderia cenocepacia invasion in normal airway epithelia.
Title: The SPLUNC1-βENaC complex prevents Burkholderia cenocepacia invasion in normal airway epithelia.
Scnn1b-Transgenic BALB/c Mice as a Model of Pseudomonas aeruginosa Infections of the Cystic Fibrosis Lung.
Title: Scnn1b-Transgenic BALB/c Mice as a Model of Pseudomonas aeruginosa Infections of the Cystic Fibrosis Lung.
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.
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.
Scnn1b-Tg mice exhibited an approximately 50% reduction mucociliary clearance
Title: Contribution of mucus concentration and secreted mucins Muc5ac and Muc5b to the pathogenesis of muco-obstructive lung disease.
Loss of betaENaC function resulted in meibomian gland disease and severe ocular surface damage that phenocopied aspects of human pseudohypoaldosteronism-1 MG disease and was sex dependent.
Title: Loss of β Epithelial Sodium Channel Function in Meibomian Glands Produces Pseudohypoaldosteronism 1-Like Ocular Disease in Mice.
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.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Variation

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Alleles

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

Targeted (8) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AA848646 (e-PCR)
- UniSTS:250165

AU046758 (e-PCR)
- UniSTS:111159

D1Smu8 (e-PCR)
- UniSTS:517845

PMC15575P2 (e-PCR)
- UniSTS:271351

PMC15577P1 (e-PCR)
- UniSTS:271355

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
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
acts_upstream_of_or_within aldosterone metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within artery smooth muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
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
acts_upstream_of_or_within epithelial fluid transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within erythrocyte homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype 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 leukocyte activation involved in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within leukocyte activation involved in inflammatory response	IGI Inferred from Genetic Interaction more info	PubMed
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
acts_upstream_of_or_within mucus secretion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal-level water homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multicellular organismal-level water homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neutrophil activation involved in immune response	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neutrophil activation involved in immune response	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neutrophil-mediated killing of bacterium	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neutrophil-mediated killing of bacterium	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within potassium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of blood pressure	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of sodium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within renal system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to food	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype 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
acts_upstream_of_or_within sensory perception of taste	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sodium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
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 cytoplasmic vesicle	IEA Inferred from Electronic Annotation 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
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 beta

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

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_001272023.1 → NP_001258952.1 amiloride-sensitive sodium channel subunit beta

See identical proteins and their annotated locations for NP_001258952.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AF112186, AK036819, AK087055

Consensus CDS

CCDS21804.1

UniProtKB/Swiss-Prot

Q9WU38

UniProtKB/TrEMBL

A2RS45

Conserved Domains (2) summary

TIGR00859
Location:21 → 621

ENaC; sodium channel transporter

TIGR00867
Location:29 → 538

deg-1; degenerin
NM_011325.2 → NP_035455.1 amiloride-sensitive sodium channel subunit beta

See identical proteins and their annotated locations for NP_035455.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shortest transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AF112186, AK036819, AK087055

Consensus CDS

CCDS21804.1

UniProtKB/Swiss-Prot

Q9WU38

UniProtKB/TrEMBL

A2RS45

Related

ENSMUSP00000033161.6, ENSMUST00000033161.7

Conserved Domains (2) summary

TIGR00859
Location:21 → 621

ENaC; sodium channel transporter

TIGR00867
Location:29 → 538

deg-1; degenerin

RNA

NR_073548.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF112186, AK036819, AK087055, AK164709

Related

ENSMUST00000205520.2