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    SCN9A sodium channel, voltage gated, type IX alpha subunit [ Homo sapiens (human) ]

    Gene ID: 6335, updated on 15-Jul-2015
    Official Symbol
    SCN9Aprovided by HGNC
    Official Full Name
    sodium channel, voltage gated, type IX alpha subunitprovided by HGNC
    Primary source
    HGNC:HGNC:10597
    See related
    Ensembl:ENSG00000169432; HPRD:04565; MIM:603415; Vega:OTTHUMG00000154044
    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
    PN1; ETHA; NENA; SFNP; FEB3B; NE-NA; GEFSP7; HSAN2D; Nav1.7
    Summary
    This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 2009]
    Orthologs
    See SCN9A in Epigenomics, MapViewer
    Location:
    2q24
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (166195185..166375987, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (167051695..167232497, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724058 Neighboring gene TTC21B antisense RNA 1 Neighboring gene tetratricopeptide repeat domain 21B Neighboring gene uncharacterized LOC101929680 Neighboring gene sodium channel, voltage gated, type I alpha subunit Neighboring gene uncharacterized LOC105373731 Neighboring gene sodium channel, voltage gated, type VII alpha subunit Neighboring gene xin actin binding repeat containing 2 Neighboring gene XIRP2 antisense RNA 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
      Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
    • L1CAM interactions, organism-specific biosystem (from REACTOME)
      L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sodium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated sodium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    behavioral response to pain IEA
    Inferred from Electronic Annotation
    more info
     
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    membrane depolarization during action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neuronal action potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sodium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    voltage-gated sodium channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    sodium channel protein type 9 subunit alpha
    Names
    hNE-Na
    neuroendocrine sodium channel
    peripheral sodium channel 1
    sodium channel protein type IX subunit alpha
    sodium channel, voltage-gated, type IX, alpha polypeptide
    sodium channel, voltage-gated, type IX, alpha subunit
    voltage-gated sodium channel alpha subunit Nav1.7
    voltage-gated sodium channel subunit alpha Nav1.7

    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_012798.1 RefSeqGene

      Range
      5001..185803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_369

    mRNA and Protein(s)

    1. NM_002977.3NP_002968.1  sodium channel protein type 9 subunit alpha

      See identical proteins and their annotated locations for NP_002968.1

      Status: REVIEWED

      Source sequence(s)
      AC107082, AC108146, AK307549, AL517958, BU742924, DQ857292, X82835
      Consensus CDS
      CCDS46441.1
      UniProtKB/Swiss-Prot
      Q15858
      Related
      ENSP00000386306, OTTHUMP00000204933, ENST00000409672, OTTHUMT00000333636
      Conserved Domains (4) summary
      cd13433
      Location:14471499
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12171445
      Ion_trans; Ion transport protein
      pfam06512
      Location:9711191
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488684
      DUF3451; Domain of unknown function (DUF3451)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

      Range
      166195185..166375987
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511618.1XP_011509920.1  

      Conserved Domains (4) summary
      cd13433
      Location:14471499
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12171445
      Ion_trans; Ion transport protein
      pfam06512
      Location:9711191
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488684
      DUF3451; Domain of unknown function (DUF3451)
    2. XM_011511617.1XP_011509919.1  

      UniProtKB/Swiss-Prot
      Q15858
      Conserved Domains (4) summary
      cd13433
      Location:14581510
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12281456
      Ion_trans; Ion transport protein
      pfam06512
      Location:9821202
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488695
      DUF3451; Domain of unknown function (DUF3451)
    3. XM_005246757.1XP_005246814.1  

      See identical proteins and their annotated locations for XP_005246814.1

      UniProtKB/Swiss-Prot
      Q15858
      Conserved Domains (4) summary
      cd13433
      Location:14581510
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12281456
      Ion_trans; Ion transport protein
      pfam06512
      Location:9821202
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488695
      DUF3451; Domain of unknown function (DUF3451)
    4. XM_011511616.1XP_011509918.1  

      See identical proteins and their annotated locations for XP_011509918.1

      UniProtKB/Swiss-Prot
      Q15858
      Related
      ENSP00000386330, OTTHUMP00000204936, ENST00000409435, OTTHUMT00000333639
      Conserved Domains (4) summary
      cd13433
      Location:14581510
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12281456
      Ion_trans; Ion transport protein
      pfam06512
      Location:9821202
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488695
      DUF3451; Domain of unknown function (DUF3451)
    5. XM_011511619.1XP_011509921.1  

      Conserved Domains (4) summary
      cd13433
      Location:14581504
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12281456
      Ion_trans; Ion transport protein
      pfam06512
      Location:9821202
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488695
      DUF3451; Domain of unknown function (DUF3451)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      167057860..167238542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)