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The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]
SCN2B (Sodium Voltage-Gated Channel Beta Subunit 2) is a Protein Coding gene. Diseases associated with SCN2B include Atrial Fibrillation, Familial, 14 and Familial Atrial Fibrillation. Among its related pathways are Neuroscience and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include sodium channel regulator activity and voltage-gated sodium channel activity involved in cardiac muscle cell action potential. An important paralog of this gene is SCN4B.
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:0005248 | voltage-gated sodium channel activity | IEA | -- |
GO:0005272 | sodium channel activity | IEA | -- |
GO:0017080 | sodium channel regulator activity | IDA | 19808477 |
GO:0086006 | voltage-gated sodium channel activity involved in cardiac muscle cell action potential | IMP | 19808477 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001518 | voltage-gated sodium channel complex | IDA,TAS | 9295116 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0045202 | synapse | 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 | Neuroscience |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006814 | sodium ion transport | IEA | -- |
GO:0007268 | chemical synaptic transmission | TAS | 9295116 |
GO:0007399 | nervous system development | 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 | |
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 | SCN2B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SCN2B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SCN2B 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Scn2b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Scn2b 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SCN2B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SCN2B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SCN2B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | scn2b 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | scn2b 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
655020 | Conflicting Interpretations: Atrial fibrillation, familial, 14; not provided | 118,166,924(-) | G/A | MISSENSE_VARIANT | |
670018 | Benign: not provided | 118,176,942(-) | T/C | ||
670022 | Benign: not provided | 118,176,919(-) | A/G | ||
674741 | Likely Benign: not provided | 118,167,237(-) | C/A | INTRON_VARIANT | |
674851 | Benign: not provided | 118,167,982(-) | T/C | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
atrial fibrillation, familial, 14 |
|
|
familial atrial fibrillation |
|
|
atrial fibrillation |
|
|
brugada syndrome |
|
|
sudden infant death syndrome |
|
|