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

Gene ID: 20273, updated on 5-Jul-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
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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 glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
 
located_in integral component of membrane ISO
Inferred from Sequence Orthology
more info
 
located_in integral component of postsynaptic density membrane ISO
Inferred from Sequence Orthology
more info
 
located_in integral component of presynaptic active zone 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 parallel fiber to Purkinje cell synapse 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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