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FLASH GENE
Symbol SCN11A contributors: mct/npt - updated : 14-12-2013
HGNC name sodium channel, voltage-gated, type XI, alpha subunit
HGNC id 10583
Corresponding disease
HSAN7 hereditary sensory and autonomic neuropathy, type VII
Location 3p22.2      Physical location : 38.887.259 - 38.992.052
Synonym name
  • sodium channel, voltage-gated, type XI, alpha
  • peripheral nerve sodium channel 5
  • sensory neuron sodium channel 2
  • sodium channel, voltage-gated, type XII, alpha polypeptide
  • sodium channel, voltage-gated, type XI, alpha polypeptide
  • Synonym symbol(s) NAV1.9, SCN12A, NaN, SNS-2, PN5, FEPS3, HSAN7
    DNA
    TYPE functioning gene
    STRUCTURE 107.88 kb     26 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    SLC22A13 3p22-p21.3 solute carrier family 22 (organic cation transporter), member 13 SLC22A14 3p22-p21.3 solute carrier family 22 (organic cation transporter), member 14 XYLB 3p22-p21.3 xylulokinase homolog (H. influenzae) ACVR2B 3p22 activin A receptor, type IIB ENDOGL1 3p21.3 endonuclease G-like 1 LOC391528 3 similar to ribosomal protein L18a; 60S ribosomal protein L18a SCN5A 3p21 sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) SCN10A 3p21-p22 sodium channel, voltage-gated, type X, alpha SCN11A 3p24-p21 sodium channel, voltage-gated, type XI, alpha KIAA1449 3p21.33 WD repeat endosomal protein GORASP1 3p22-p21.33 golgi reassembly stacking protein 1, 65kDa STI2 3p21.33 TPR domain containing STI2 AXUD1 3p22 AXIN1 up-regulated 1 CMYA1 3p21.33 cardiomyopathy associated 1 CX3CR1 3p21.32-p21.31 chemokine (C-X3-C motif) receptor 1 CCR8 3p21.32-p21.31 chemokine (C-C motif) receptor 8 hnRNPA1p 3p21.33 heterogeneous nuclear ribonucleoprotein A1 pseudogene LOC389109 3 similar to elongation factor 1 alpha LOC389110 3 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) LOC389111 3 similar to RIKEN cDNA 1110038F21 FLJ20551 3p21.33 hypothetical protein FLJ20551
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 6500 205 1791 - Raymond (2004)
    - - 6331 - 1791 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbrainponstrigeminal gangliapredominantly Homo sapiens
     spinal cord    
     spinal cordsensory gangliadorsal root predominantly Homo sapiens
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousglia
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transmembrane domains of homology
  • six alpha helical membrane spanning segments
  • two cytoplasmic loops
  • HOMOLOGY
    Homologene
    FAMILY
  • sodium channel family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • SCN11A protein is preferentially localized in axons and growth cones
  • basic FUNCTION
  • sodium channel voltage-gated resistant to tetrodoxin
  • mediating brain-derived neurotrophic factor (BDNF)-evoked membrane depolarization through the receptor tyrosine kinase NTRK2
  • its sodium channel provides an important link between inflammatory processes and changes in urodynamic properties that occur during urinary bladder inflammation (Ritter 2009)
  • may play a role in different pain conditions, and its signaling might be involved in visceral pain (Leo 2010)
  • modulatory role in the development of cold, but not mechanical allodynia in neuropathic pain conditions (Leo 2010)
  • plays a crucial role in the generation of heat and mechanical pain hypersensitivity, both in subacute and chronic inflammatory pain models
  • its function appears to be essential for activity-dependent axon growth, acting upstream of spontaneous Ca(2+) elevation through voltage-gated calcium channels (VGCCs)
  • contributes to expression of persistent Na current in small diameter, nociceptive sensory neurons in dorsal root ganglia and is required for inflammatory pain sensation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of membrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HSAN7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneouspain 
    would be an appealing target for the development of specific drugs to relieve pain
    neuromuscularspinal muscular atrophy 
    activation could therefore serve as a target for modulating axonal regeneration in motoneuron diseases such as SMA in which presynaptic activity of VGCCs is reduced
    ANIMAL & CELL MODELS
  • in Nav1.9-null mice, although the Nav1.9 channel does not contribute to basal pain thresholds, it plays an important role in heat pain hypersensitivity induced by subacute paw inflammation