Sodium channel protein type 11 subunit alpha

UniProt Q9UI33 Organism Homo sapiens Gene SCN11A, SCN12A, SNS2

Also known as: SCN11A, SCN12A, SNS2

Function

Sodium channel mediating 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 sodium ions may pass in accordance with their electrochemical gradient. Involved in membrane depolarization during action potential in nociceptors which function as key relay stations for the electrical transmission of pain signals from the periphery to the central nervous system. Also involved in rapid BDNF-evoked neuronal depolarization.

Classification

Family (Pfam): PF00520 Ion_trans, PF24609 IQ_SCN5A_C, PF06512 Na_trans_assoc
InterPro: Ion_trans_dom, IQ_SCN5A_C, Na_channel_asu, Na_chnl_inactivation_gate, Na_trans_assoc_dom, VGCC_Ca_Na, Volt_channel_dom_sf
Functional cluster: Membrane Transporters & GPCRs

Gene Ontology · 43

Disease associations

hereditary sensory and autonomic neuropathy type 7 MONDO:0014244
familial episodic pain syndrome with predominantly lower limb involvement MONDO:0014247

Drugs targeting this protein · 56

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Sodium channel protein type 11 subunit alpha 1 shared papers
Sodium channel protein type 9 subunit alpha 1 shared papers

Literature · 11 cited papers

Infantile pain episodes associated with novel Nav1.9 mutations in familial episodic pain syndrome in japanese families. PLoS ONE · 2016
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant. Nat. Commun. · 2015
The domain II S4-S5 linker in Nav1.9: a missense mutation enhances activation, impairs fast inactivation, and produces human painful neuropathy. NeuroMolecular Med. · 2015
Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. Brain · 2014
Gain-of-function mutations in SCN11A cause familial episodic pain. Am. J. Hum. Genet. · 2013
A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat. Genet. · 2013
The DNA sequence, annotation and analysis of human chromosome 3. Nature · 2006
Expression of alternatively spliced sodium channel alpha-subunit genes: unique splicing patterns are observed in dorsal root ganglia. J. Biol. Chem. · 2004
Neurotrophin-evoked depolarization requires the sodium channel Nav1.9. Nature · 2002
Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A. Biochem. Biophys. Res. Commun. · 2000
Two tetrodotoxin-resistant sodium channels in human dorsal root ganglion neurons. FEBS Lett. · 1999

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