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    SCN9A sodium voltage-gated channel alpha subunit 9 [ Homo sapiens (human) ]

    Gene ID: 6335, updated on 8-Nov-2017
    Official Symbol
    SCN9Aprovided by HGNC
    Official Full Name
    sodium voltage-gated channel alpha subunit 9provided by HGNC
    Primary source
    HGNC:HGNC:10597
    See related
    Ensembl:ENSG00000169432 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
    Location:
    2q24.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 sodium voltage-gated channel alpha subunit 1 Neighboring gene uncharacterized LOC101929680 Neighboring gene RNA, 7SK small nuclear pseudogene 152 Neighboring gene sodium voltage-gated channel alpha subunit 7 Neighboring gene uncharacterized LOC107985958

    • 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 Jun 15 11:32:44 2016

    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...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • 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...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Phase 0 - rapid depolarisation, organism-specific biosystem (from REACTOME)
      Phase 0 - rapid depolarisation, organism-specific biosystemPhase 0 is the rapid depolarisation phase in which electrical stimulation of a cell initiates events involving the influx and efflux of ions resulting in the production of a cell's action potential. ...
    • Taste transduction, organism-specific biosystem (from KEGG)
      Taste transduction, organism-specific biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
    • Taste transduction, conserved biosystem (from KEGG)
      Taste transduction, conserved biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    sodium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated sodium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of pain IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sodium ion transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
      ENSP00000386306.1, OTTHUMP00000204933, ENST00000409672.5, OTTHUMT00000333636
      Conserved Domains (5) summary
      cd13433
      Location:14471499
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:11981455
      Ion_trans; Ion transport protein
      pfam06512
      Location:9711176
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488607
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17711826
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005246757.2XP_005246814.1  sodium channel protein type 9 subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_005246814.1

      UniProtKB/Swiss-Prot
      Q15858
      Related
      ENSP00000304748.7, ENST00000303354.10
      Conserved Domains (5) summary
      cd13433
      Location:14581510
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12091466
      Ion_trans; Ion transport protein
      pfam06512
      Location:9821187
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488607
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17821837
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    2. XM_011511618.2XP_011509920.1  sodium channel protein type 9 subunit alpha isoform X3

      UniProtKB/Swiss-Prot
      Q15858
      Conserved Domains (5) summary
      cd13433
      Location:14471499
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:11981455
      Ion_trans; Ion transport protein
      pfam06512
      Location:9711176
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488607
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17711826
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    3. XM_011511617.2XP_011509919.1  sodium channel protein type 9 subunit alpha isoform X2

      UniProtKB/Swiss-Prot
      Q15858
      Conserved Domains (5) summary
      cd13433
      Location:14581510
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12091466
      Ion_trans; Ion transport protein
      pfam06512
      Location:9821187
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488607
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17821837
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    4. XM_011511616.2XP_011509918.1  sodium channel protein type 9 subunit alpha isoform X1

      See identical proteins and their annotated locations for XP_011509918.1

      UniProtKB/Swiss-Prot
      Q15858
      Related
      ENSP00000386330.1, OTTHUMP00000204936, ENST00000409435.5, OTTHUMT00000333639
      Conserved Domains (5) summary
      cd13433
      Location:14581510
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12091466
      Ion_trans; Ion transport protein
      pfam06512
      Location:9821187
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488607
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel
      pfam16905
      Location:17821837
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    5. XM_017004668.1XP_016860157.1  sodium channel protein type 9 subunit alpha isoform X4

    6. XM_017004669.1XP_016860158.1  sodium channel protein type 9 subunit alpha isoform X5

    7. XM_011511619.2XP_011509921.1  sodium channel protein type 9 subunit alpha isoform X6

      Conserved Domains (4) summary
      cd13433
      Location:14581504
      Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
      pfam00520
      Location:12091466
      Ion_trans; Ion transport protein
      pfam06512
      Location:9821187
      Na_trans_assoc; Sodium ion transport-associated
      pfam11933
      Location:488607
      Na_trans_cytopl; Cytoplasmic domain of voltage-gated Na+ ion channel

    RNA

    1. XR_001738886.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

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