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

Gene ID: 110876, updated on 17-Jul-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
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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 ISO
Inferred from Sequence Orthology
more info
 
enables leucine zipper domain binding ISO
Inferred from Sequence Orthology
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 sodium channel activity IEA
Inferred from Electronic Annotation
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
 
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 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 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 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
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
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 
part_of monoatomic ion channel complex IEA
Inferred from Electronic Annotation
more info
 
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)

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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_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