SCN9A

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]

Sodium Voltage-Gated Channel Alpha Subunit 9

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient (PubMed:7720699, PubMed:17167479, PubMed:25240195, PubMed:26680203, PubMed:15385606, PubMed:16988069, PubMed:17145499, PubMed:19369487, PubMed:24311784).
It is a tetrodotoxin-sensitive Na+ channel isoform (PubMed:7720699).
Plays a role in pain mechanisms, especially in the development of inflammatory pain (PubMed:17167479, PubMed:17145499, PubMed:19369487, PubMed:24311784).

Biological Process behavioral response to formalin induced painIEA:Ensembl
Biological Process inflammatory responseIEA:Ensembl
Biological Process membrane depolarization during action potentialManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of action potentialIEA:Ensembl
Biological Process neuronal action potentialManual Assertion Based On ExperimentIBA:GO_Central
Biological Process post-embryonic developmentIEA:Ensembl
Biological Process regulation of ion transmembrane transportIEA:UniProtKB-KW
Biological Process response to coldIEA:Ensembl
Biological Process response to heatIEA:Ensembl
Biological Process response to toxic substanceIEA:Ensembl
Biological Process sensory perception of painManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process sodium ion transmembrane transportManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process sodium ion transportManual Assertion Based On ExperimentTAS:ProtInc

Cell membrane
Cell projection, neuron projection
In neurite terminals.

Primary erythermalgia (PERYTHM):
Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands.
Indifference to pain, congenital, autosomal recessive (CIP):
A disorder characterized by congenital inability to perceive any form of pain, in any part of the body. All other sensory modalities are preserved and the peripheral and central nervous systems are apparently intact. Patients perceive the sensations of touch, warm and cold temperature, proprioception, tickle and pressure, but not painful stimuli. There is no evidence of a motor or sensory neuropathy, either axonal or demyelinating.
Paroxysmal extreme pain disorder (PEPD):
Autosomal dominant paroxysmal disorder of pain and autonomic dysfunction. The distinctive features are paroxysmal episodes of burning pain in the rectal, ocular, and mandibular areas accompanied by autonomic manifestations such as skin flushing.

Phosphorylation at Ser-1490 by PKC in a highly conserved cytoplasmic loop increases peak sodium currents.
Ubiquitinated by NEDD4L; which may promote its endocytosis. Does not seem to be ubiquitinated by NEDD4.