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

Gene ID: 6335, updated on 7-Aug-2014
Official Symbol
SCN9Aprovided by HGNC
Official Full Name
sodium channel, voltage-gated, type IX, alpha subunitprovided by HGNC
Primary source
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; 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]
See SCN9A in Epigenomics, MapViewer
Location:
2q24
Exon count:
27
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 uncharacterized LOC102724058 Neighboring gene uncharacterized LOC101929680 Neighboring gene sodium channel, voltage-gated, type I, alpha subunit 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 IBA
Inferred from Biological aspect of Ancestor
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
sodium channel protein type 9 subunit alpha
hNE-Na
peripheral sodium channel 1
neuroendocrine sodium channel
sodium channel protein type IX subunit alpha
voltage-gated sodium channel alpha subunit Nav1.7
voltage-gated sodium channel subunit alpha Nav1.7
sodium channel, voltage-gated, type IX, alpha polypeptide

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 

    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 proteins identical to 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
    Blast Score: 296
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12171445
    Blast Score: 454
    Ion_trans; Ion transport protein
    pfam06512
    Location:9711191
    Blast Score: 688
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:488684
    Blast Score: 582
    DUF3451; Domain of unknown function (DUF3451)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

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

mRNA and Protein(s)

  1. XM_005246757.1XP_005246814.1  

    See proteins identical to XP_005246814.1

    UniProtKB/Swiss-Prot
    Q15858
    Related
    ENSP00000386330, OTTHUMP00000204936, ENST00000409435, OTTHUMT00000333639
    Conserved Domains (4) summary
    cd13433
    Location:14581510
    Blast Score: 296
    Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits
    pfam00520
    Location:12281456
    Blast Score: 454
    Ion_trans; Ion transport protein
    pfam06512
    Location:9821202
    Blast Score: 682
    Na_trans_assoc; Sodium ion transport-associated
    pfam11933
    Location:488695
    Blast Score: 598
    DUF3451; Domain of unknown function (DUF3451)

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    158932999..159113694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

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