SCN2B sodium voltage-gated channel beta subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCN2Bprovided by HGNC
Official Full Name: sodium voltage-gated channel beta subunit 2provided by HGNC
Primary source: HGNC:HGNC:10589
See related: Ensembl:ENSG00000149575 MIM:601327; AllianceGenome:HGNC:10589
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATFB14
Summary: 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]
Expression: Biased expression in brain (RPKM 17.5), heart (RPKM 5.3) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (118162806..118176639, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (118179198..118193026, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (118033521..118047354, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel gain-of-function sodium channel beta2 subunit mutation in idiopathic small fiber neuropathy.
Title: A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy.
this study reports the cryo-electron microscopy structures of the human Nav1.7-beta1-beta2 complex bound to two combinations of pore blockers and gating modifier toxins (GMTs), tetrodotoxin with protoxin-II and saxitoxin with huwentoxin-IV, both determined at overall resolutions of 3.2 angstroms.
Title: Structures of human Na(v)1.7 channel in complex with auxiliary subunits and animal toxins.
Findings add to the understanding of beta2 role in Nav 1.5 trafficking and localisation, which must influence cell excitability and electrical coupling in the heart.
Title: Trafficking and localisation to the plasma membrane of Na(v) 1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome.
The authors identified a flexible loop formed by (72)Cys and (75)Cys, a unique feature among the four beta-subunit isoforms.
Title: Binary architecture of the Nav1.2-β2 signaling complex.
Contribution of Cardiac Sodium Channel beta-Subunit Variants to Brugada Syndrome.
Title: Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.
In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes.
Title: The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
With increased beta-2 expression, prostate cancer cells display a trend of enhanced association with nerve axons.
Title: Identification of beta-2 as a key cell adhesion molecule in PCa cell neurotropic behavior: a novel ex vivo and biophysical approach.
sodium channel polymorphisms are associated with epilepsy
Title: Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.
SCN2B is a new candidate gene associated with Brugada syndrome.
Title: A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Atrial fibrillation, familial, 14 MedGen: C3809312 OMIM: 615378 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S4701 (e-PCR)
- UniSTS:36689

WI-20536 (e-PCR)
- UniSTS:31059

HSC0CC032 (e-PCR)
- UniSTS:12510

SCN2B_7255 (e-PCR)
- UniSTS:466423

SHGC-153284 (e-PCR)
- UniSTS:177655

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables sodium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables sodium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IEA Inferred from Electronic Annotation more info
enables voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cardiac conduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle cell action potential involved in contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in cardiac muscle cell action potential involved in contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization during action potential	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane depolarization during cardiac muscle cell action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane depolarization during cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane repolarization during ventricular cardiac muscle cell action potential	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of sodium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of atrial cardiac muscle cell membrane depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to heat	IEA Inferred from Electronic Annotation more info
involved_in response to pyrethroid	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in T-tubule	IEA Inferred from Electronic Annotation more info
located_in axon initial segment	IEA Inferred from Electronic Annotation more info
located_in node of Ranvier	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info
part_of voltage-gated sodium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated sodium channel complex	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated sodium channel complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: sodium channel regulatory subunit beta-2

Names: neuronal voltage-gated sodium channel beta 2 subunit; sodium channel, voltage gated, type II beta subunit; sodium channel, voltage-gated, type II, beta polypeptide

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042217.1 RefSeqGene

Range

4984..18817

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004588.5 → NP_004579.1 sodium channel regulatory subunit beta-2 precursor

See identical proteins and their annotated locations for NP_004579.1

Status: REVIEWED

Source sequence(s)

AP002800, BC036793, DA290917

Consensus CDS

CCDS8390.1

UniProtKB/Swiss-Prot

O60939, O75302, Q9UNN3

UniProtKB/TrEMBL

Q5U0K8

Related

ENSP00000278947.5, ENST00000278947.6

Conserved Domains (1) summary

cd05715
Location:30 → 146

IgV_P0-like; Immunoglobulin (Ig)-like domain of protein zero (P0) and similar proteins