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Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
SCN11A (Sodium Voltage-Gated Channel Alpha Subunit 11) is a Protein Coding gene. Diseases associated with SCN11A include Episodic Pain Syndrome, Familial, 3 and Neuropathy, Hereditary Sensory And Autonomic, Type Vii. Among its related pathways are Neuroscience and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated sodium channel activity. An important paralog of this gene is SCN5A.
Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low levels in non-excitable cells, where their physiological role is unclear.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005216 | ion channel activity | IEA | -- |
GO:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005248 | voltage-gated sodium channel activity | TAS,IBA | 21873635 |
GO:0005261 | cation channel activity | IBA | 21873635 |
GO:0005272 | sodium channel activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001518 | voltage-gated sodium channel complex | IBA | 21873635 |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030424 | axon | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activation of cAMP-Dependent PKA |
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
|
PKA Signaling
.56
|
2 | Neuropathic Pain-Signaling in Dorsal Horn Neurons |
Aldosterone Signaling in Epithelial Cells
.47
Neuropathic Pain-Signaling in Dorsal Horn Neurons
.47
|
Cholera Infection
.40
|
3 | Developmental Biology |
.51
|
|
4 | Cardiac conduction | ||
5 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | TAS | -- |
GO:0019228 | neuronal action potential | IBA | 21873635 |
GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
GO:0035725 | sodium ion transmembrane transport | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Cocaine | Approved, Illicit | Pharma | Target, inhibitor | 599 | ||
Zonisamide | Approved, Investigational | Pharma | Target, inhibitor, blocker | Antiepileptic with anticonvulsant and mechanistic effect | 74 | |
Carbamazepine | Approved, Investigational | Pharma | Target, inhibitor | Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant | 104 | |
Lamotrigine | Approved, Investigational | Pharma | Target, inhibitor | 5-HT inhibitor | 201 | |
Oxcarbazepine | Approved | Pharma | Target, inhibitor | BTX inhibitor | 64 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
sodium |
|
7440-23-5 |
|
|||
Amiloride hydrochloride |
|
2016-88-8 |
|
|
Compound | Action | Cas Number |
---|---|---|
Amiloride hydrochloride | Na+ channel blocker; also I2 imidazoline ligand | 2016-88-8 |
Carbamazepine | Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant | 298-46-4 |
Vinpocetine | Na+ channel blocker | 42971-09-5 |
Compound | Action | Cas Number |
---|---|---|
A-803467 | NaV1.8 channel blocker,potent and selective | 944261-79-4 |
Ambroxol HCl | TTX-resistant Na+ currents inhibitor | 23828-92-4 |
Amiloride HCl | 2016-88-8 | |
Amiloride HCl dihydrate | 17440-83-4 | |
Benzocaine | 1994-09-7 | |
Bupivacaine HCl | Anaesthetic drug | 18010-40-7 |
Camostat Mesilate | Trypsin-like protease inhibitor | 59721-29-8 |
Carbamazepine | 298-46-4 | |
Dibucaine (Cinchocaine) HCl | 1961-12-1 | |
Ibutilide Fumarate | Class III antiarrhythmic agent | 122647-32-9 |
Lamotrigine | 5-HT inhibitor | 84057-84-1 |
Levobupivacaine HCl | 27262-48-2 | |
Mexiletine HCl | 5370-01-4 | |
Nefopam HCl | 23327-57-3 | |
Ouabain | 630-60-4 | |
Oxcarbazepine | BTX inhibitor | 28721-07-5 |
Phenytoin | 57-41-0 | |
Phenytoin sodium | Sodium channel stabilizer | 630-93-3 |
Primidone | 125-33-7 | |
Procainamide HCl | 614-39-1 | |
Procaine HCl | 1951-05-8 | |
Propafenone HCl | 34183-22-7 | |
Proparacaine HCl | 5875-06-9 | |
Riluzole | Sodium channel protein inhibitor | 1744-22-5 |
Tolperisone HCl | 3644-61-9 | |
Triamterene | 396-01-0 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SCN11A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SCN11A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SCN11A 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Scn11a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Scn11a 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SCN11A 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SCN11A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SCN11A 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | scn1a 31 |
|
ManyToMany | |
CABZ01063402.1 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
624020 | Uncertain Significance: not provided | 38,903,884(-) | ATCT/A | INFRAME_DELETION | |
637857 | Likely Benign: Neuropathy, hereditary sensory and autonomic, type VII; Episodic pain syndrome, familial, 3; Charcot-Marie-Tooth disease | 38,909,039(-) | C/A | MISSENSE_VARIANT | |
637858 | Uncertain Significance: Charcot-Marie-Tooth disease | 38,897,206(-) | G/T | MISSENSE_VARIANT | |
637859 | Uncertain Significance: Charcot-Marie-Tooth disease | 38,894,844(-) | C/G | MISSENSE_VARIANT | |
637860 | Uncertain Significance: Charcot-Marie-Tooth disease | 38,850,752(-) | C/T | SPLICE_ACCEPTOR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv769e201 | CNV | deletion | 23290073 |
dgv885e214 | CNV | loss | 21293372 |
esv1088777 | CNV | deletion | 17803354 |
esv2574623 | CNV | deletion | 19546169 |
esv2725165 | CNV | deletion | 23290073 |
esv2725166 | CNV | deletion | 23290073 |
esv2725167 | CNV | deletion | 23290073 |
esv2725170 | CNV | deletion | 23290073 |
esv2725171 | CNV | deletion | 23290073 |
esv2725172 | CNV | deletion | 23290073 |
esv2725173 | CNV | deletion | 23290073 |
esv2759141 | CNV | loss | 17122850 |
esv29050 | CNV | loss | 19812545 |
esv3349812 | CNV | insertion | 20981092 |
esv3595916 | CNV | gain | 21293372 |
nsv955555 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
episodic pain syndrome, familial, 3 |
|
|
neuropathy, hereditary sensory and autonomic, type vii |
|
|
sodium channelopathy-related small fiber neuropathy |
|
|
paroxysmal extreme pain disorder |
|
|
familial episodic pain syndrome |
|
|