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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 found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SCN3A (Sodium Voltage-Gated Channel Alpha Subunit 3) is a Protein Coding gene. Diseases associated with SCN3A include Epilepsy, Familial Focal, With Variable Foci 4 and Epileptic Encephalopathy, Early Infantile, 62. Among its related pathways are Activation of cAMP-Dependent PKA and Neuropathic Pain-Signaling in Dorsal Horn Neurons. 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 SCN2A.
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 | NAS | 9589372 |
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:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
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 | Taste transduction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | NAS | 9589372 |
GO:0019228 | neuronal action potential | IBA | 21873635 |
GO:0034220 | ion transmembrane transport | IEA | -- |
GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
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 | |
Phenytoin | Approved, Vet_approved | Pharma | Pore Blocker, Target | 86 |
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 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - |
ExUns: | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | · | 24c | ^ | 25a | · | 25b | ^ | 26a | · | 26b | · | 26c | ^ | 27 | ^ | 28 | ^ | 29 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SCN3A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SCN3A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SCN3A 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SCN3A 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Scn3a 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Scn3a 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SCN3A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SCN3A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SCN3A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100488621 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | scn1lab 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | NaCP60E 32 |
|
|
|
para 32 |
|
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638876 | Uncertain Significance: not provided | 165,115,482(-) | G/A | MISSENSE_VARIANT | |
638991 | Uncertain Significance: not provided | 165,162,673(-) | C/T | MISSENSE_VARIANT | |
639015 | Uncertain Significance: not provided | 165,090,526(-) | T/C | MISSENSE_VARIANT | |
639540 | Uncertain Significance: not provided | 165,128,088(-) | A/G | MISSENSE_VARIANT | |
641086 | Uncertain Significance: not provided | 165,092,349(-) | C/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2081n106 | CNV | deletion | 24896259 |
dgv7153n54 | CNV | loss | 21841781 |
dgv7154n54 | CNV | loss | 21841781 |
dgv7155n54 | CNV | loss | 21841781 |
esv2554394 | CNV | deletion | 19546169 |
esv2585640 | CNV | deletion | 19546169 |
esv25924 | CNV | loss | 19812545 |
esv2666303 | CNV | deletion | 23128226 |
esv2667791 | CNV | deletion | 23128226 |
esv2673049 | CNV | deletion | 23128226 |
esv2721067 | CNV | deletion | 23290073 |
esv3335133 | CNV | insertion | 20981092 |
esv3560470 | CNV | deletion | 23714750 |
esv3593232 | CNV | loss | 21293372 |
esv3593233 | CNV | loss | 21293372 |
esv7053 | CNV | loss | 19470904 |
esv8404 | CNV | gain | 19470904 |
esv992100 | CNV | gain | 20482838 |
nsv213574 | CNV | deletion | 16902084 |
nsv435715 | CNV | deletion | 17901297 |
nsv511183 | CNV | gain | 21212237 |
nsv583561 | CNV | loss | 21841781 |
nsv583564 | CNV | loss | 21841781 |
nsv583578 | CNV | loss | 21841781 |
nsv583582 | CNV | loss | 21841781 |
nsv821783 | CNV | loss | 20364138 |
nsv961524 | CNV | duplication | 23825009 |
nsv963742 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epilepsy, familial focal, with variable foci 4 |
|
|
epileptic encephalopathy, early infantile, 62 |
|
|
polymicrogyria |
|
|
undetermined early-onset epileptic encephalopathy |
|
|
trigeminal neuralgia |
|
|