U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Scn2a sodium channel, voltage-gated, type II, alpha [ Mus musculus (house mouse) ]

    Gene ID: 110876, updated on 9-Dec-2024

    Summary

    Official Symbol
    Scn2aprovided by MGI
    Official Full Name
    sodium channel, voltage-gated, type II, alphaprovided by MGI
    Primary source
    MGI:MGI:98248
    See related
    Ensembl:ENSMUSG00000075318 AllianceGenome:MGI:98248
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Nav1.2; Scn2a1; 6430408L10; A230052E19Rik
    Summary
    Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. In humans, variants of this gene are associated with seizure disorders and autism spectrum disorder. Mice homozygous for a knockout mutation die with severe hypoxia and extensive neuronal cell death, while gain of function mutations result in progressive seizure disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
    Expression
    Biased expression in cerebellum adult (RPKM 21.0), cortex adult (RPKM 18.1) and 4 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Scn2a in Genome Data Viewer
    Location:
    2 C1.3; 2 38.61 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (65451108..65597791)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (65620764..65767447)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_04675 Neighboring gene STARR-seq mESC enhancer starr_04677 Neighboring gene STARR-seq mESC enhancer starr_04678 Neighboring gene STARR-seq mESC enhancer starr_04681 Neighboring gene predicted gene, 34739 Neighboring gene STARR-seq mESC enhancer starr_04684 Neighboring gene sodium channel, voltage-gated, type III, alpha Neighboring gene STARR-seq mESC enhancer starr_04690 Neighboring gene predicted gene, 34833 Neighboring gene VISTA enhancer mm777 Neighboring gene STARR-seq mESC enhancer starr_04691 Neighboring gene STARR-seq mESC enhancer starr_04692 Neighboring gene STARR-seq mESC enhancer starr_04693 Neighboring gene predicted gene, 51432 Neighboring gene cysteine-serine-rich nuclear protein 3 Neighboring gene predicted gene, 52514

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calmodulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables leucine zipper domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sodium channel activity TAS
    Traceable Author Statement
    more info
     
    enables sodium ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables voltage-gated sodium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables voltage-gated sodium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to hypoxia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within dentate gyrus development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within determination of adult lifespan IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane depolarization during action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in memory 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 
    acts_upstream_of_or_within nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuron apoptotic process 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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuronal action potential ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    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 
    involved_in sodium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axon IDA
    Inferred from Direct Assay
    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
     
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in node of Ranvier ISO
    Inferred from Sequence Orthology
    more info
     
    located_in paranode region of axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in presynaptic membrane IDA
    Inferred from Direct Assay
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    part_of voltage-gated sodium channel complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium channel protein type 2 subunit alpha
    Names
    sodium channel, voltage-gated, type II, alpha 1
    sodium channel, voltage-gated, type II, alpha polypeptide 1
    voltage-gated sodium channel subunit alpha Nav1.2

    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_001099298.3NP_001092768.1  sodium channel protein type 2 subunit alpha

      See identical proteins and their annotated locations for NP_001092768.1

      Status: REVIEWED

      Source sequence(s)
      AL772235, BX284648
      Consensus CDS
      CCDS38130.1
      UniProtKB/Swiss-Prot
      A0A0J9YTW6, B1AWN6
      UniProtKB/TrEMBL
      A0A0R5RP29
      Related
      ENSMUSP00000097645.4, ENSMUST00000100067.7
      Conserved Domains (5) summary
      cd13433
      Location:14751527
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12081483
      Ion_trans; Ion transport protein
      pfam06512
      Location:9981204
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:516700
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17911854
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    2. NM_001346679.2NP_001333608.1  sodium channel protein type 2 subunit alpha

      Status: REVIEWED

      Source sequence(s)
      AL772235, BX284648
      Consensus CDS
      CCDS84529.1
      UniProtKB/TrEMBL
      A0A0R5RP29, A0A5H1ZRM8
    3. NM_001346680.1NP_001333609.1  sodium channel protein type 2 subunit alpha

      Status: REVIEWED

      Source sequence(s)
      AL772235, BX284648
      Consensus CDS
      CCDS84529.1
      UniProtKB/TrEMBL
      A0A0R5RP29, A0A5H1ZRM8
      Related
      ENSMUSP00000143882.2, ENSMUST00000200829.4

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      65451108..65597791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017314945.1XP_017170434.1  sodium channel protein type 2 subunit alpha isoform X1

      UniProtKB/TrEMBL
      A0A0R5RP29
      Conserved Domains (5) summary
      cd13433
      Location:14031455
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:11361411
      Ion_trans; Ion transport protein
      pfam06512
      Location:9261132
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:444638
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17271774
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    2. XM_006498583.5XP_006498646.1  sodium channel protein type 2 subunit alpha isoform X2

      UniProtKB/TrEMBL
      A0A0R5RP29
      Conserved Domains (5) summary
      cd13433
      Location:12241276
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:9571232
      Ion_trans; Ion transport protein
      pfam06512
      Location:747953
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:265459
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:15481595
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated