Scn7a sodium channel, voltage-gated, type VII, alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Scn7aprovided by MGI
Official Full Name: sodium channel, voltage-gated, type VII, alphaprovided by MGI
Primary source: MGI:MGI:102965
See related: Ensembl:ENSMUSG00000034810 AllianceGenome:MGI:102965
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
Also known as: NaG; Nax; Nav2; Scn6a; Nav2.3; 1110034K09Rik
Summary: Enables sodium channel activity. Involved in osmosensory signaling pathway. Acts upstream of or within cellular homeostasis; response to bacterium; and sodium ion homeostasis. Located in glial cell projection. Is active in plasma membrane. Is expressed in heart and heart ventricle. Orthologous to human SCN7A (sodium voltage-gated channel alpha subunit 7). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in lung adult (RPKM 20.0), bladder adult (RPKM 6.6) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C1.3; 2 39.21 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (66503770..66615254, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (66673426..66784910, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Nax channels are expressed in specific glial cells in the organum vasculosum lamina terminalis which detects increases in Na(+) in body fluids.
Title: [Na(+)] Increases in Body Fluids Sensed by Central Na(x) Induce Sympathetically Mediated Blood Pressure Elevations via H(+)-Dependent Activation of ASIC1a.
These results suggest that the Na(+) signal generated in Nax-positive glial cells leads to the activation of TRPV4-positive neurons in sCVOs to stimulate water intake by using EETs as gliotransmitters.
Title: Nax signaling evoked by an increase in [Na+] in CSF induces water intake via EET-mediated TRPV4 activation.
SAP97 promotes the stability of Nax channels at the plasma membrane.
Title: SAP97 promotes the stability of Nax channels at the plasma membrane.
identified the promoter and transcription start sites of Na(x) sodium channel in dorsal root ganglia neurons; findings provide the basis with which to understand tissue-specific regulation of Nax sodium channel gene (Scn7a) expression
Title: Identification and functional characterization of the promoter of the mouse sodium-activated sodium channel Na(x) gene (Scn7a).
results suggest that glial cells bearing the Na(x) channel are the first to sense a physiological increase in the level of sodium in the body fluid.
Title: Sodium-level-sensitive sodium channel Na(x) is expressed in glial laminate processes in the sensory circumventricular organs.
Results show that the subfornical organ is the center of the control of salt-intake behavior in the brain, where the Na-level-sensitive Na(x) channel is involved in sensing the physiological increase in the Na level of body fluids.
Title: The subfornical organ is the primary locus of sodium-level sensing by Na(x) sodium channels for the control of salt-intake behavior.
Nav2-deficient mice show a preference for 0.15 M NaCl over water during a free two-choice intake test compared with wild-type; preference ratios for NaCl in wild tend to increase after combined superior laryngeal and glossopharyngeal nerve transection.
Title: A comparison of voluntary salt-intake behavior in Nax-gene deficient and wild-type mice with reference to peripheral taste inputs.
Nax/Nav2 channel is expressed in alveolar type II cells, suggesting a role in the control of extracellular sodium level.
Title: NaX sodium channel is expressed in non-myelinating Schwann cells and alveolar type II cells in mice.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (2) 1 citation

General gene information

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Markers

35.MMHAP90FLD5.seq (e-PCR)
- UniSTS:124162

AI642000 (e-PCR)
- UniSTS:178630

D2Mit91 (e-PCR), detects polymorphism
- UniSTS:129487

L36179 (e-PCR)
- UniSTS:124904

L36179 (e-PCR)
- UniSTS:158969

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables osmolarity-sensing monoatomic cation channel activity	ISO Inferred from Sequence Orthology more info
enables sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables sodium channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osmosensory signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to bacterium	IEP Inferred from Expression Pattern more info	PubMed
involved_in sodium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within sodium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in 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 transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in glial cell projection	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sodium channel protein type 7 subunit alpha

Names: nax channel; sodium channel Nav2.3; sodium channel, voltage-gated, type VI, alpha polypeptide

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_009135.2 → NP_033161.2 sodium channel protein type 7 subunit alpha

Status: VALIDATED

Source sequence(s)

AL928623, AL928720

Consensus CDS

CCDS16081.1

UniProtKB/Swiss-Prot

B1AYL1, Q62467

Related

ENSMUSP00000042405.7, ENSMUST00000042792.7

Conserved Domains (3) summary

cd13433
Location:1195 → 1246

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:951 → 1204

Ion_trans; Ion transport protein

pfam06512
Location:743 → 927

Na_trans_assoc; Sodium ion transport-associated