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    Scn2a sodium voltage-gated channel alpha subunit 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 24766, updated on 11-Apr-2024

    Summary

    Official Symbol
    Scn2aprovided by RGD
    Official Full Name
    sodium voltage-gated channel alpha subunit 2provided by RGD
    Primary source
    RGD:3632
    See related
    Ensembl:ENSRNOG00000005018 AllianceGenome:RGD:3632
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    SCN; ScpII; NachII; Nav1.2; Scn2a1; Scn2a2; RII/RIIA; RNSCPIIR
    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. [provided by RefSeq, Nov 2016]
    Expression
    Restricted expression toward (RPKM 552.3) See more
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    Genomic context

    Location:
    3q21
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (70710862..70845569)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (50302781..50437504)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (51687910..51822008)

    Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134486368 Neighboring gene sodium voltage-gated channel alpha subunit 3 Neighboring gene small nucleolar RNA SNORA17 Neighboring gene uncharacterized LOC134486370 Neighboring gene cysteine and serine rich nuclear protein 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in axon development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cerebral cortex development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in corpus callosum development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in dentate gyrus development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within dentate gyrus development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within determination of adult lifespan ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intrinsic apoptotic signaling pathway in response to osmotic stress IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to osmotic stress ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to osmotic stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in membrane depolarization during action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in memory ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in myelination IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in nerve development IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within nerve development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within nervous system development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuronal action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuronal action potential IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 neuronal action potential TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in optic nerve development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sodium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within sodium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in T-tubule ISO
    Inferred from Sequence Orthology
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intercalated disc IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intercalated disc ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in node of Ranvier IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in paranode region of axon IEA
    Inferred from Electronic Annotation
    more info
     
    located_in paranode region of axon ISO
    Inferred from Sequence Orthology
    more info
     
    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 presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in presynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of voltage-gated sodium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of voltage-gated sodium channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of voltage-gated sodium channel complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sodium channel protein type 2 subunit alpha
    Names
    RIIA sodium channel protein
    sodium channel protein type II subunit alpha
    sodium channel protein, brain II subunit alpha
    sodium channel voltage-gated type II alpha polypeptide
    sodium channel, voltage-gated, type 2, alpha 1 polypeptide
    sodium channel, voltage-gated, type 2, alpha 1 subunit
    sodium channel, voltage-gated, type II, alpha 1
    sodium channel, voltage-gated, type II, alpha subunit
    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_012647.3NP_036779.2  sodium channel protein type 2 subunit alpha

      Status: PROVISIONAL

      Source sequence(s)
      JAXUCZ010000003
      UniProtKB/TrEMBL
      A0A8I5YBA6, A6HLX5
      Related
      ENSRNOP00000076431.1, ENSRNOT00000098856.1
      Conserved Domains (5) summary
      cd13433
      Location:14741526
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12071482
      Ion_trans; Ion transport protein
      pfam06512
      Location:9971203
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:516709
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17981845
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086021.1 Reference GRCr8

      Range
      70710862..70845569
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063283106.1XP_063139176.1  sodium channel protein type 2 subunit alpha isoform X2

      UniProtKB/TrEMBL
      A0A0G2K207
    2. XM_063283105.1XP_063139175.1  sodium channel protein type 2 subunit alpha isoform X1

      UniProtKB/TrEMBL
      A0A8I5YBA6
    3. XM_063283107.1XP_063139177.1  sodium channel protein type 2 subunit alpha isoform X2

      UniProtKB/TrEMBL
      A0A0G2K207