Format

Send to:

Choose Destination
    • Showing Current items.

    SCN7A sodium voltage-gated channel alpha subunit 7 [ Homo sapiens (human) ]

    Gene ID: 6332, updated on 23-Nov-2021

    Summary

    Official Symbol
    SCN7Aprovided by HGNC
    Official Full Name
    sodium voltage-gated channel alpha subunit 7provided by HGNC
    Primary source
    HGNC:HGNC:10594
    See related
    Ensembl:ENSG00000136546 MIM:182392
    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
    NaG; SCN6A; Nav2.1; Nav2.2
    Summary
    This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]
    Expression
    Broad expression in ovary (RPKM 21.8), lung (RPKM 14.7) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SCN7A in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (166403573..166494264, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (167260083..167350759, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene SCN1A and SCN9A antisense RNA 1 Neighboring gene RN7SK pseudogene 152 Neighboring gene sodium voltage-gated channel alpha subunit 9 Neighboring gene uncharacterized LOC107985958 Neighboring gene xin actin binding repeat containing 2 Neighboring gene XIRP2 antisense RNA 1

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
    GeneReviews: Not available

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 
    Process Evidence Code Pubs
    involved_in membrane depolarization during action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuronal action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in sodium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in glial cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    part_of voltage-gated sodium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    sodium channel protein type 7 subunit alpha
    Names
    putative voltage-gated sodium channel subunit alpha Nax
    sodium channel protein cardiac and skeletal muscle subunit alpha
    sodium channel protein type VII subunit alpha
    sodium channel, voltage-gated, type VI, alpha polypeptide
    sodium channel, voltage-gated, type VII, alpha subunit
    voltage-dependent sodium channel alpha subunit

    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_031928.1 RefSeqGene

      Range
      5001..88399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002976.4NP_002967.2  sodium channel protein type 7 subunit alpha

      See identical proteins and their annotated locations for NP_002967.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the protein-coding transcript.
      Source sequence(s)
      AC074101, AC092583
      Consensus CDS
      CCDS46442.1
      UniProtKB/Swiss-Prot
      Q01118
      Related
      ENSP00000496114.1, ENST00000643258.1
      Conserved Domains (3) summary
      cd13433
      Location:11941246
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:9511198
      Ion_trans; Ion transport protein
      pfam06512
      Location:743927
      Na_trans_assoc; Sodium ion transport-associated

    RNA

    1. NR_045628.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon and is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC074101, AC092583, BC062699, BC141864, CK903677

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      166403573..166494264 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511615.2XP_011509917.1  sodium channel protein type 7 subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_011509917.1

      UniProtKB/Swiss-Prot
      Q01118
      Conserved Domains (3) summary
      cd13433
      Location:11941246
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:9511198
      Ion_trans; Ion transport protein
      pfam06512
      Location:743927
      Na_trans_assoc; Sodium ion transport-associated
    2. XM_017004667.1XP_016860156.1  sodium channel protein type 7 subunit alpha isoform X1

      UniProtKB/Swiss-Prot
      Q01118
      Conserved Domains (3) summary
      cd13433
      Location:11941246
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:9511198
      Ion_trans; Ion transport protein
      pfam06512
      Location:743927
      Na_trans_assoc; Sodium ion transport-associated
    3. XM_006712682.3XP_006712745.1  sodium channel protein type 7 subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_006712745.1

      UniProtKB/Swiss-Prot
      Q01118
      Conserved Domains (3) summary
      cd13433
      Location:11941246
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:9511198
      Ion_trans; Ion transport protein
      pfam06512
      Location:743927
      Na_trans_assoc; Sodium ion transport-associated
    4. XM_006712680.2XP_006712743.1  sodium channel protein type 7 subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_006712743.1

      UniProtKB/Swiss-Prot
      Q01118
      Related
      ENSP00000403846.2, ENST00000441411.2
      Conserved Domains (3) summary
      cd13433
      Location:11941246
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:9511198
      Ion_trans; Ion transport protein
      pfam06512
      Location:743927
      Na_trans_assoc; Sodium ion transport-associated
    Support Center