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

    Gene ID: 20273, updated on 19-Sep-2021

    Summary

    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
    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
    s; NaC; Nav; dmu; med; mnd; nmf; nur; mnd-; mnd2; nmf2; nmf5; seal; NMF33; NaCh6; mnd-2; nmf58; nur14; Nav1.6; nmf335; AI853486; C630029C19Rik
    Expression
    Biased expression in cortex adult (RPKM 21.8), cerebellum adult (RPKM 21.1) and 5 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Scn8a in Genome Data Viewer
    Location:
    15 56.39 cM; 15 F1
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 15 NC_000081.5 (100701114..100876360)

    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 predicted gene, 35569 Neighboring gene predicted gene, 52176 Neighboring gene fidgetin-like 2 Neighboring gene transmembrane and death domain 1 Neighboring gene predicted gene, 53912

    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)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cation channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables 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 ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables voltage-gated sodium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within adult walking behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    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
    PubMed 
    acts_upstream_of_or_within muscle organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuromuscular process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuronal action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in neuronal action potential ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    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
    PubMed 
    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
    PubMed 
    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 
    located_in integral component of membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    located_in plasma 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
    PubMed 
    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

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

    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_001077499.2NP_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
      Q9WTU3
      UniProtKB/TrEMBL
      F6U329
      Related
      ENSMUSP00000080842.7, ENSMUST00000082209.13
      Conserved Domains (5) summary
      smart00015
      Location:18921913
      IQ; Calmodulin-binding motif
      cd13433
      Location:14631515
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12131471
      Ion_trans; Ion transport protein
      pfam06512
      Location:9891190
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:502611
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    2. NM_011323.3NP_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
      Q9WTU3
      UniProtKB/TrEMBL
      F7D6K4
      Related
      ENSMUSP00000104538.4, ENSMUST00000108910.10
      Conserved Domains (6) summary
      smart00015
      Location:18921913
      IQ; Calmodulin-binding motif
      cd13433
      Location:14631515
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:11951471
      Ion_trans; Ion transport protein
      pfam06512
      Location:9891190
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:504700
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17861833
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    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_000081.7 Reference GRCm39 C57BL/6J

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

    mRNA and Protein(s)

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

      Conserved Domains (6) summary
      smart00015
      Location:19021923
      IQ; Calmodulin-binding motif
      cd13433
      Location:14731525
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12051481
      Ion_trans; Ion transport protein
      pfam06512
      Location:9991200
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:504710
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17961843
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    2. XM_006520656.3XP_006520719.1  sodium channel protein type 8 subunit alpha isoform X6

      UniProtKB/TrEMBL
      A0A0J9YUW5
      Related
      ENSMUSP00000144371.2, ENSMUST00000200963.4
      Conserved Domains (6) summary
      smart00015
      Location:18511872
      IQ; Calmodulin-binding motif
      cd13433
      Location:14221474
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:14791733
      Ion_trans; Ion transport protein
      pfam06512
      Location:9891190
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:504700
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17451792
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    3. XM_017316512.3XP_017172001.1  sodium channel protein type 8 subunit alpha isoform X1

      UniProtKB/TrEMBL
      F7D6J5
      Conserved Domains (6) summary
      smart00015
      Location:19021923
      IQ; Calmodulin-binding motif
      cd13433
      Location:14731525
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12051481
      Ion_trans; Ion transport protein
      pfam06512
      Location:9991200
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:504710
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17961843
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    4. XM_017316517.3XP_017172006.1  sodium channel protein type 8 subunit alpha isoform X4

      Conserved Domains (6) summary
      smart00015
      Location:18611882
      IQ; Calmodulin-binding motif
      cd13433
      Location:14321484
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:14891743
      Ion_trans; Ion transport protein
      pfam06512
      Location:9991200
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:504710
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17551802
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    5. XM_006520651.3XP_006520714.1  sodium channel protein type 8 subunit alpha isoform X3

      See identical proteins and their annotated locations for XP_006520714.1

      UniProtKB/TrEMBL
      F7D6K4
      Conserved Domains (6) summary
      smart00015
      Location:18921913
      IQ; Calmodulin-binding motif
      cd13433
      Location:14631515
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:11951471
      Ion_trans; Ion transport protein
      pfam06512
      Location:9891190
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:504700
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17861833
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    6. XM_006520655.3XP_006520718.1  sodium channel protein type 8 subunit alpha isoform X5

      UniProtKB/TrEMBL
      A0A0R5RP22
      Conserved Domains (6) summary
      smart00015
      Location:18511872
      IQ; Calmodulin-binding motif
      cd13433
      Location:14221474
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:14791733
      Ion_trans; Ion transport protein
      pfam06512
      Location:9891190
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:504700
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17451792
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    7. XM_017316515.3XP_017172004.1  sodium channel protein type 8 subunit alpha isoform X1

      UniProtKB/TrEMBL
      F7D6J5
      Conserved Domains (6) summary
      smart00015
      Location:19021923
      IQ; Calmodulin-binding motif
      cd13433
      Location:14731525
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12051481
      Ion_trans; Ion transport protein
      pfam06512
      Location:9991200
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:504710
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17961843
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    8. XM_017316519.3XP_017172008.1  sodium channel protein type 8 subunit alpha isoform X7

      Conserved Domains (3) summary
      pfam00520
      Location:760973
      Ion_trans; Ion transport protein
      pfam06512
      Location:9991200
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:504710
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
    9. XM_017316513.2XP_017172002.1  sodium channel protein type 8 subunit alpha isoform X1

      UniProtKB/TrEMBL
      F7D6J5
      Related
      ENSMUSP00000104537.4, ENSMUST00000108909.9
      Conserved Domains (6) summary
      smart00015
      Location:19021923
      IQ; Calmodulin-binding motif
      cd13433
      Location:14731525
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12051481
      Ion_trans; Ion transport protein
      pfam06512
      Location:9991200
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:504710
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17961843
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    10. XM_017316514.2XP_017172003.1  sodium channel protein type 8 subunit alpha isoform X1

      UniProtKB/TrEMBL
      F7D6J5
      Conserved Domains (6) summary
      smart00015
      Location:19021923
      IQ; Calmodulin-binding motif
      cd13433
      Location:14731525
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12051481
      Ion_trans; Ion transport protein
      pfam06512
      Location:9991200
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:504710
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17961843
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RNA

    1. XR_004938811.1 RNA Sequence

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