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Scn8a sodium channel, voltage-gated, type VIII, alpha [ Mus musculus (house mouse) ]

Gene ID: 20273, updated on 31-Mar-2024

Summary

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Official Symbol
Scn8aprovided by MGI
Official Full Name
sodium channel, voltage-gated, type VIII, alphaprovided by MGI
Primary source
MGI:MGI:103169
See related
Ensembl:ENSMUSG00000023033 AllianceGenome:MGI:103169
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
dmu; med; mnd2; nmf2; seal; NaCh6; mnd-2; nmf58; nur14; Nav1.6; nmf335; C630029C19Rik
Summary
Predicted to enable sodium ion binding activity and voltage-gated sodium channel activity. Acts upstream of or within several processes, including adult walking behavior; muscle organ development; and sensory perception of sound. Located in several cellular components, including Z disc; neuronal cell body; and node of Ranvier. Part of sodium channel complex. Is expressed in several structures, including heart; metanephros; nervous system; and nucleus pulposus. Used to study early infantile epileptic encephalopathy and epilepsy. Human ortholog(s) of this gene implicated in benign familial neonatal epilepsy and developmental and epileptic encephalopathy 13. Orthologous to human SCN8A (sodium voltage-gated channel alpha subunit 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in cortex adult (RPKM 21.8), cerebellum adult (RPKM 21.1) and 5 other tissues See more
Orthologs
human all
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Genomic context

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See Scn8a in Genome Data Viewer
Location:
15 56.39 cM; 15 F1
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (100766600..100943819)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (100869863..101045938)

Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene solute carrier family 4 (anion exchanger), member 8 Neighboring gene predicted gene, 41401 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:100675553-100676012 Neighboring gene predicted gene, 35569 Neighboring gene predicted gene, 52176 Neighboring gene STARR-seq mESC enhancer starr_39769 Neighboring gene fidgetin-like 2 Neighboring gene transmembrane and death domain 1 Neighboring gene predicted gene, 53912

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Cryo-EM structure of human voltage-gated sodium channel Na(v)1.6. Fan X, et al. Proc Natl Acad Sci U S A, 2023 Jan 31. PMID 36696443, Free PMC Article
  2. NBI-921352, a first-in-class, Na(V)1.6 selective, sodium channel inhibitor that prevents seizures in Scn8a gain-of-function mice, and wild-type mice and rats. Johnson JP, et al. Elife, 2022 Mar 2. PMID 35234610, Free PMC Article
  3. Peri-Ictal Autonomic Control of Cardiac Function and Seizure-Induced Death. Wenker IC, et al. Front Neurosci, 2021. PMID 35126041, Free PMC Article
  4. Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders. Hu C, et al. Seizure, 2022 Feb. PMID 34979445
  5. Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease. Wong JC, et al. Front Pharmacol, 2021. PMID 34867351, Free PMC Article

See all (217) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Experimental and computational evidence that Calpain-10 binds to the carboxy terminus of NaV1.2 and NaV1.6.
    Title: Experimental and computational evidence that Calpain-10 binds to the carboxy terminus of Na(V)1.2 and Na(V)1.6.
  2. Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
    Title: Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
  3. Persistent Nav1.1 and Nav1.6 currents drive spinal locomotor functions through nonlinear dynamics.
    Title: Persistent Nav1.1 and Nav1.6 currents drive spinal locomotor functions through nonlinear dynamics.
  4. Role of NaV1.6-mediated persistent sodium current and bursting-pacemaker properties in breathing rhythm generation.
    Title: Role of Na(V)1.6-mediated persistent sodium current and bursting-pacemaker properties in breathing rhythm generation.
  5. Cryo-EM structure of human voltage-gated sodium channel Nav1.6.
    Title: Cryo-EM structure of human voltage-gated sodium channel Na(v)1.6.
  6. Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2.
    Title: Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2.
  7. Reducing Nav1.6 expression attenuates the pathogenesis of Alzheimer's disease by suppressing BACE1 transcription.
    Title: Reducing Nav1.6 expression attenuates the pathogenesis of Alzheimer's disease by suppressing BACE1 transcription.
  8. Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse.
    Title: Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse.
  9. Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders.
    Title: Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders.
  10. Autistic-like behavior, spontaneous seizures, and increased neuronal excitability in a Scn8a mouse model.
    Title: Autistic-like behavior, spontaneous seizures, and increased neuronal excitability in a Scn8a mouse model.
Submit: New GeneRIF Correction See all GeneRIFs (95)

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables monoatomic cation channel activity IEA
Inferred from Electronic Annotation
more info
  
enables monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sodium channel activity IEA
Inferred from Electronic Annotation
more info
  
enables sodium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables voltage-gated sodium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables voltage-gated sodium channel activity ISO
Inferred from Sequence Orthology
more info
  
enables voltage-gated sodium channel activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within adult walking behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within locomotory behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in membrane depolarization during action potential IBA
Inferred from Biological aspect of Ancestor
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 monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within muscle organ development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within nerve development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within nerve development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neuronal action potential IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuronal action potential ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within response to toxic substance IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sodium ion transport ISO
Inferred from Sequence Orthology
more info
  
involved_in sodium ion transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Z disc IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axon ISO
Inferred from Sequence Orthology
more info
  
located_in axon initial segment ISO
Inferred from Sequence Orthology
more info
  
located_in cell junction ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in dendrite IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of monoatomic ion channel complex IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in node of Ranvier IDA
Inferred from Direct Assay
more info
 PubMed 
located_in node of Ranvier ISO
Inferred from Sequence Orthology
more info
  
is_active_in parallel fiber to Purkinje cell synapse ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in postsynaptic density membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in presynaptic active zone membrane ISO
Inferred from Sequence Orthology
more info
  
part_of sodium channel complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of voltage-gated sodium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of voltage-gated sodium channel complex IC
Inferred by Curator
more info
 PubMed 
part_of voltage-gated sodium channel complex ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
sodium channel protein type 8 subunit alpha
Names
ataxia 3
sodium channel protein type VIII subunit alpha
voltage-gated sodium channel alpha subunit
voltage-gated sodium channel subunit alpha Nav1.6

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)

  1. NM_001077499.2 → NP_001070967.1  sodium channel protein type 8 subunit alpha isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes isoform 1.
    Source sequence(s)
    AC104834, AK083220, AK158609, CJ128345
    Consensus CDS
    CCDS57010.1
    UniProtKB/Swiss-Prot
    Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3
    UniProtKB/TrEMBL
    F6U329
    Related
    ENSMUSP00000080842.7, ENSMUST00000082209.13
    Conserved Domains (5) summary
    smart00015
    Location:1892 → 1913
    IQ; Calmodulin-binding motif
    cd13433
    Location:1463 → 1515
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1213 → 1471
    Ion_trans; Ion transport protein
    pfam06512
    Location:989 → 1190
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:502 → 611
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

  2. NM_011323.3 → NP_035453.2  sodium channel protein type 8 subunit alpha isoform 2

    See identical proteins and their annotated locations for NP_035453.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon and contains an alternate in-frame exon compared to variant 1. The encoded isoform (2) is the same length as isoform 1 but has a distinct sequence.
    Source sequence(s)
    AC104834, AF049617, AK083220, AK158609, AK160844
    Consensus CDS
    CCDS57011.1
    UniProtKB/Swiss-Prot
    Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3
    UniProtKB/TrEMBL
    F7D6H8, F7D6K4
    Related
    ENSMUSP00000104538.4, ENSMUST00000108910.10
    Conserved Domains (6) summary
    smart00015
    Location:1892 → 1913
    IQ; Calmodulin-binding motif
    cd13433
    Location:1463 → 1515
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1195 → 1471
    Ion_trans; Ion transport protein
    pfam06512
    Location:989 → 1190
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:504 → 700
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1786 → 1833
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

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

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    100766600..100943819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017316516.3 → XP_017172005.1  sodium channel protein type 8 subunit alpha isoform X2

    UniProtKB/Swiss-Prot
    Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3
    Conserved Domains (6) summary
    smart00015
    Location:1902 → 1923
    IQ; Calmodulin-binding motif
    cd13433
    Location:1473 → 1525
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1205 → 1481
    Ion_trans; Ion transport protein
    pfam06512
    Location:999 → 1200
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:504 → 710
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1796 → 1843
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  2. XM_006520656.3 → XP_006520719.1  sodium channel protein type 8 subunit alpha isoform X6

    UniProtKB/Swiss-Prot
    Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3
    UniProtKB/TrEMBL
    A0A0J9YUW5
    Related
    ENSMUSP00000144371.2, ENSMUST00000200963.4
    Conserved Domains (6) summary
    smart00015
    Location:1851 → 1872
    IQ; Calmodulin-binding motif
    cd13433
    Location:1422 → 1474
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1479 → 1733
    Ion_trans; Ion transport protein
    pfam06512
    Location:989 → 1190
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:504 → 700
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1745 → 1792
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  3. XM_017316512.3 → XP_017172001.1  sodium channel protein type 8 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3
    UniProtKB/TrEMBL
    F7D6J5
    Conserved Domains (6) summary
    smart00015
    Location:1902 → 1923
    IQ; Calmodulin-binding motif
    cd13433
    Location:1473 → 1525
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1205 → 1481
    Ion_trans; Ion transport protein
    pfam06512
    Location:999 → 1200
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:504 → 710
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1796 → 1843
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  4. XM_017316517.3 → XP_017172006.1  sodium channel protein type 8 subunit alpha isoform X4

    UniProtKB/Swiss-Prot
    Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3
    Conserved Domains (6) summary
    smart00015
    Location:1861 → 1882
    IQ; Calmodulin-binding motif
    cd13433
    Location:1432 → 1484
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1489 → 1743
    Ion_trans; Ion transport protein
    pfam06512
    Location:999 → 1200
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:504 → 710
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1755 → 1802
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  5. XM_006520651.3 → XP_006520714.1  sodium channel protein type 8 subunit alpha isoform X3

    See identical proteins and their annotated locations for XP_006520714.1

    UniProtKB/Swiss-Prot
    Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3
    UniProtKB/TrEMBL
    F7D6H8, F7D6K4
    Conserved Domains (6) summary
    smart00015
    Location:1892 → 1913
    IQ; Calmodulin-binding motif
    cd13433
    Location:1463 → 1515
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1195 → 1471
    Ion_trans; Ion transport protein
    pfam06512
    Location:989 → 1190
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:504 → 700
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1786 → 1833
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  6. XM_006520655.3 → XP_006520718.1  sodium channel protein type 8 subunit alpha isoform X5

    UniProtKB/Swiss-Prot
    Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3
    UniProtKB/TrEMBL
    A0A0R5RP22
    Conserved Domains (6) summary
    smart00015
    Location:1851 → 1872
    IQ; Calmodulin-binding motif
    cd13433
    Location:1422 → 1474
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1479 → 1733
    Ion_trans; Ion transport protein
    pfam06512
    Location:989 → 1190
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:504 → 700
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1745 → 1792
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  7. XM_017316515.3 → XP_017172004.1  sodium channel protein type 8 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3
    UniProtKB/TrEMBL
    F7D6J5
    Conserved Domains (6) summary
    smart00015
    Location:1902 → 1923
    IQ; Calmodulin-binding motif
    cd13433
    Location:1473 → 1525
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1205 → 1481
    Ion_trans; Ion transport protein
    pfam06512
    Location:999 → 1200
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:504 → 710
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1796 → 1843
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  8. XM_017316519.3 → XP_017172008.1  sodium channel protein type 8 subunit alpha isoform X7

    Conserved Domains (3) summary
    pfam00520
    Location:760 → 973
    Ion_trans; Ion transport protein
    pfam06512
    Location:999 → 1200
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:504 → 710
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

  9. XM_017316513.2 → XP_017172002.1  sodium channel protein type 8 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3
    UniProtKB/TrEMBL
    F7D6J5
    Related
    ENSMUSP00000104537.4, ENSMUST00000108909.9
    Conserved Domains (6) summary
    smart00015
    Location:1902 → 1923
    IQ; Calmodulin-binding motif
    cd13433
    Location:1473 → 1525
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1205 → 1481
    Ion_trans; Ion transport protein
    pfam06512
    Location:999 → 1200
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:504 → 710
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1796 → 1843
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  10. XM_017316514.2 → XP_017172003.1  sodium channel protein type 8 subunit alpha isoform X1

    UniProtKB/Swiss-Prot
    Q3TYI3, Q60828, Q60858, Q62449, Q9WTU3
    UniProtKB/TrEMBL
    F7D6J5
    Conserved Domains (6) summary
    smart00015
    Location:1902 → 1923
    IQ; Calmodulin-binding motif
    cd13433
    Location:1473 → 1525
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:1205 → 1481
    Ion_trans; Ion transport protein
    pfam06512
    Location:999 → 1200
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:504 → 710
    Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    pfam16905
    Location:1796 → 1843
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RNA

  1. XR_004938811.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9WTU3.1 GenPept UniProtKB/Swiss-Prot:Q9WTU3

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