Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SCN9A contributors: mct/npt - updated : 27-10-2017
HGNC name sodium channel, voltage-gated, type IX, alpha subunit
HGNC id 10597
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6)and one positively charged segment (S4)
  • a IQ domain
    • HOMOLOGY
    interspecies homolog to murine Scn9a
    ortholog to rattus Pn1 sodium channel
    Homologene
    FAMILY
  • sodium channel family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating the voltage-dependent sodium ion permeability of excitable membranes
  • playing a role in pain mechanisms, especially in the development of inflammatory pain
  • with SCN2A, and SCN3A, likely account for the tetrodotoxin-sensitive sodium currents in taste receptor cells (Gao 2009)
  • essential and non-redundant requirement for nociception
  • acting as a critical element of peripheral nociception
  • plays an important role in cell migration, endocytosis, and secretion and have a potential role in the aortic progression of intimal hyperplasia after balloon injury (Meguro 2009)
  • play a crucial role in pain sensation and in nociception (Chatelier 2008)
  • is not only necessary for pain sensation but is also an essential requirement for odour perception
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
  • beyond the thermosensors, the FGF13c/SCN9A omplex is essential for sustaining the transmission of noxious heat signals
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with NEDD4 and NEDD4L
  • DPYSL2 protein SUMOylation modulates SCN9A channel trafficking
  • diverse modifications of DPYSL2 cross-talk to control SCN9A activity
  • FGF13 interacted with the sodium channel SCN9A in a heat-facilitated manner (FGF13 increased SCN9A sodium currents and maintained the membrane localization of SCN9A during noxious heat stimulation, enabling the sustained firing of action potentials)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ETHA , CIEP , PEXPD , GEFSP2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in prostate cancer (Diss 2008)
    constitutional germinal mutation     loss of function
    loss-of-function mutations in a single gene, SCN9A, cause a general loss of two major senses—nociception and smell
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target extremely promising target for selective pharmaceutical intervention in the analgesia
    ANIMAL & CELL MODELS