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Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit 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 beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
SCN3B (Sodium Voltage-Gated Channel Beta Subunit 3) is a Protein Coding gene. Diseases associated with SCN3B include Brugada Syndrome 7 and Brugada Syndrome. 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 binding and voltage-gated sodium channel activity. An important paralog of this gene is SCN1B.
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:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005272 | sodium channel activity | IEA | -- |
GO:0005515 | protein binding | IPI | 28514442 |
GO:0017080 | sodium channel regulator activity | IMP | 20042427 |
GO:0019871 | sodium channel inhibitor activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001518 | voltage-gated sodium channel complex | TAS | 21895525 |
GO:0005886 | plasma membrane | IDA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | NAS | 10688874 |
GO:0030018 | Z disc | 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 | Antiarrhythmic Pathway, Pharmacodynamics |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | NAS | 10688874 |
GO:0007399 | nervous system development | IEA | -- |
GO:0010460 | positive regulation of heart rate | ISS | -- |
GO:0010765 | positive regulation of sodium ion transport | IMP | 21051419 |
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 | |
Brivaracetam | Approved, Investigational | Pharma | Target, inhibitor | 39 | ||
Cocaine | Approved, Illicit | Pharma | Target, inhibitor | 599 | ||
Dichlorobenzyl alcohol | Approved | Pharma | Target, antagonist | 0 | ||
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 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SCN3B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SCN3B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SCN3B 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SCN3B 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Scn3b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Scn3b 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SCN3B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SCN3B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SCN3B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | scn3b 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | scn3b 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
642346 | Uncertain Significance: Brugada syndrome 7; not specified | 123,638,187(-) | C/T | MISSENSE_VARIANT | |
644208 | Uncertain Significance: Brugada syndrome 7 | 123,642,496(-) | C/T | MISSENSE_VARIANT | |
646266 | Uncertain Significance: Brugada syndrome 7 | 123,642,497(-) | G/A | MISSENSE_VARIANT | |
669619 | Likely Benign: not provided | 123,642,952(-) | T/C | INTRON_VARIANT | |
669980 | Likely Benign: not provided | 123,654,209(-) | G/C | FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv419e212 | CNV | loss | 25503493 |
esv2759868 | CNV | loss | 17122850 |
esv3627959 | CNV | loss | 21293372 |
nsv556484 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
brugada syndrome 7 |
|
|
brugada syndrome |
|
|
familial atrial fibrillation |
|
|
atrial fibrillation |
|
|
right bundle branch block |
|
|