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    SCN4A sodium voltage-gated channel alpha subunit 4 [ Homo sapiens (human) ]

    Gene ID: 6329, updated on 23-Nov-2023

    Summary

    Official Symbol
    SCN4Aprovided by HGNC
    Official Full Name
    sodium voltage-gated channel alpha subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:10591
    See related
    Ensembl:ENSG00000007314 MIM:603967; AllianceGenome:HGNC:10591
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HYPP; SkM1; CMS16; HYKPP; NAC1A; HOKPP2; Nav1.4; CMYP22A; Na(V)1.4
    Summary
    Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They 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. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in fat (RPKM 9.2), thyroid (RPKM 1.5) and 3 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SCN4A in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63938554..63972918, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64809317..64843693, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62015914..62050278, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268204 Neighboring gene IGHD type 1A-2 recombination region Neighboring gene growth hormone locus control region Neighboring gene growth hormone 1 Neighboring gene CD79b molecule Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62036321-62037320 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62037321-62038319 Neighboring gene uncharacterized LOC105371858 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62044651-62044849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62045661-62046161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62064225-62064778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62064779-62065330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62075897-62076874 Neighboring gene PRR29 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62083286-62083980 Neighboring gene proline rich 29 Neighboring gene intercellular adhesion molecule 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62097827-62098327

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    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 GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 
    Component Evidence Code Pubs
    located_in plasma 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium channel protein type 4 subunit alpha
    Names
    CTC-264K15.6
    skeletal muscle sodium channel alpha subunit
    skeletal muscle voltage-dependent sodium channel type IV alpha subunit
    sodium channel protein skeletal muscle subunit alpha
    sodium channel protein type IV subunit alpha
    sodium channel, voltage-gated, type IV, alpha subunit
    voltage-gated sodium channel subunit alpha Nav1.4

    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.

    Genomic

    1. NG_011699.1 RefSeqGene

      Range
      5001..39365
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000334.4NP_000325.4  sodium channel protein type 4 subunit alpha

      See identical proteins and their annotated locations for NP_000325.4

      Status: REVIEWED

      Source sequence(s)
      AC127029, AY212253, M81758
      Consensus CDS
      CCDS45761.1
      UniProtKB/Swiss-Prot
      P35499, Q15478, Q16447, Q7Z6B1
      Related
      ENSP00000396320.1, ENST00000435607.3
      Conserved Domains (4) summary
      cd13433
      Location:12961348
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:10481304
      Ion_trans; Ion transport protein
      pfam06512
      Location:8161026
      Na_trans_assoc; Sodium ion transport-associated
      pfam16905
      Location:16201675
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      63938554..63972918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      64809317..64843693 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)