InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SCN2B

Summary

InnateDB Protein

IDBP-73503.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SCN2B

Protein Name

sodium channel, voltage-gated, type II, beta

Synonyms

ATFB14;

Species

Homo sapiens

Ensembl Protein

ENSP00000278947

InnateDB Gene

IDBG-73501 (SCN2B)

Protein Structure

UniProt Annotation

Function

Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium channels at nodes of Ranvier (By similarity). {ECO:0000250}.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269PubMed:19808477}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Genetic variations in SCN2B may be involved in Brugada syndrome (PubMed:23559163). This tachyarrhythmia is characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269PubMed:23559163}.

Tissue Specificity

Brain specific.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005248	voltage-gated sodium channel activity
GO:0005515	protein binding
GO:0017080	sodium channel regulator activity
GO:0086006	voltage-gated sodium channel activity involved in cardiac muscle cell action potential

Biological Process

GO:0007268	synaptic transmission
GO:0007399	nervous system development
GO:0035725	sodium ion transmembrane transport
GO:0046684	response to pyrethroid
GO:0060048	cardiac muscle contraction
GO:0060371	regulation of atrial cardiac muscle cell membrane depolarization
GO:0086002	cardiac muscle cell action potential involved in contraction
GO:0086012	membrane depolarization during cardiac muscle cell action potential
GO:0086091	regulation of heart rate by cardiac conduction
GO:2000649	regulation of sodium ion transmembrane transporter activity