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

Gene ID: 20277, updated on 5-Jan-2023

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
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Genomic context

See Scnn1b in Genome Data Viewer
Location:
7 F2; 7 65.07 cM
Exon count:
13
Annotation release Status Assembly Chr Location
109 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_000073.7Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 31 Neighboring gene sodium channel, nonvoltage-gated 1 gamma Neighboring gene predicted gene, 36848 Neighboring gene component of oligomeric golgi complex 7 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (8)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 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 amiloride IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to amiloride ISO
Inferred from Sequence Orthology
more info
 
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 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
PubMed 
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
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
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

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)

NEW Try the new Transcript table

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)

  1. NM_001272023.1NP_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:21621
    ENaC; sodium channel transporter
    TIGR00867
    Location:29538
    deg-1; degenerin
  2. NM_011325.2NP_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:21621
    ENaC; sodium channel transporter
    TIGR00867
    Location:29538
    deg-1; degenerin

RNA

  1. 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

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    121464261..121517951
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)